#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ADAM29	11086	broad.mit.edu	37	4	175898746	175898746	+	Missense_Mutation	SNP	A	A	T	rs200852076	byFrequency	TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:175898746A>T	ENST00000359240.3	+	5	2740	c.2070A>T	c.(2068-2070)ttA>ttT	p.L690F	ADAM29_ENST00000445694.1_Missense_Mutation_p.L690F|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.L690F|ADAM29_ENST00000514159.1_Missense_Mutation_p.L690F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	690					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTTTATTTTATTATGTTGTC	0.343																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2068-2070)ttA>ttT		ADAM metallopeptidase domain 29							32.0	35.0	34.0					4																	175898746		2200	4297	6497	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898746A>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2070A>T	4.37:g.175898746A>T	ENSP00000352177:p.Leu690Phe					ADAM29_ENST00000404450.4_Missense_Mutation_p.L690F|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.L690F|ADAM29_ENST00000445694.1_Missense_Mutation_p.L690F	p.L690F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2740	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	690					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2070A>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523998	0.27299	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.02323	4.34;4.34;4.34;4.34	2.86	-0.0704	0.13748	.	2.098800	0.03370	N	0.198829	T	0.02156	0.0067	N	0.17631	0.505	0.09310	N	1	B	0.24483	0.104	B	0.19666	0.026	T	0.44892	-0.9298	9	.	.	.	.	2.0065	0.03478	0.5068:0.0:0.1752:0.318	.	690	Q9UKF5	ADA29_HUMAN	F	690	ENSP00000352177:L690F;ENSP00000414544:L690F;ENSP00000384229:L690F;ENSP00000423517:L690F	.	L	+	3	2	ADAM29	176135321	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.045000	0.01410	0.001000	0.14605	-0.427000	0.05922	TTA		0.343	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				9	19	0	0	0	0.004482	0	9	19				
SIGLEC11	114132	broad.mit.edu	37	19	50463939	50463939	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:50463939G>A	ENST00000447370.2	-	2	420	c.330C>T	c.(328-330)ggC>ggT	p.G110G	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Silent_p.G110G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	110	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGCTCCCTTTGCCGGGATCCC	0.587																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(328-330)ggC>ggT		sialic acid binding Ig-like lectin 11							18.0	28.0	24.0					19																	50463939		2066	4271	6337	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50463939G>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.330C>T	19.37:g.50463939G>A						SIGLEC11_ENST00000426971.2_Silent_p.G110G	p.G110G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	2	420	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	110			Ig-like V-type.			Silent	SNP	ENST00000447370.2	37	c.330C>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	3.155	-0.173423	0.06421	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.28	2.21	0.28008	.	.	.	.	.	T	0.35335	0.0928	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.22103	-1.0226	4	.	.	.	.	8.7554	0.34643	0.0:0.7469:0.2531:0.0	.	.	.	.	V	100	.	.	A	-	2	0	SIGLEC11	55155751	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.274000	0.18680	0.646000	0.30693	-0.311000	0.09066	GCA		0.587	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		11	87	0	0	0	0.016723	0	11	87				
PAPPA2	60676	broad.mit.edu	37	1	176738821	176738821	+	Missense_Mutation	SNP	G	G	T	rs371564283		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:176738821G>T	ENST00000367662.3	+	16	5566	c.4402G>T	c.(4402-4404)Gac>Tac	p.D1468Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1468	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1468Y(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CGGTGTTCCCGACCCGTCTTT	0.507																																						ENST00000367662.3																			1	Substitution - Missense(1)	p.D1468Y(1)	lung(1)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4402-4404)Gac>Tac		pappalysin 2							134.0	128.0	130.0					1																	176738821		1938	4145	6083	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738821G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4402G>T	1.37:g.176738821G>T	ENSP00000356634:p.Asp1468Tyr						p.D1468Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			16	5566	+			1468			Sushi 2.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4402G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613585	0.46631	.	.	ENSG00000116183	ENST00000367662	T	0.01871	4.59	6.17	5.21	0.72293	Complement control module (2);Sushi/SCR/CCP (2);	0.149712	0.64402	D	0.000018	T	0.11965	0.0291	M	0.77103	2.36	0.80722	D	1	D	0.64830	0.994	D	0.63381	0.914	T	0.00011	-1.2434	10	0.87932	D	0	-30.4627	16.7427	0.85464	0.0:0.129:0.871:0.0	.	1468	Q9BXP8	PAPP2_HUMAN	Y	1468	ENSP00000356634:D1468Y	ENSP00000356634:D1468Y	D	+	1	0	PAPPA2	175005444	1.000000	0.71417	0.384000	0.26145	0.039000	0.13416	4.892000	0.63193	2.941000	0.99782	0.655000	0.94253	GAC		0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			16	102	1	0	0.000308642	0.024245	0.00032539	16	102				
NFE2L2	4780	broad.mit.edu	37	2	178096545	178096545	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:178096545G>C	ENST00000397062.3	-	5	1340	c.786C>G	c.(784-786)gaC>gaG	p.D262E	NFE2L2_ENST00000446151.2_Missense_Mutation_p.D239E|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D246E|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D246E	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	262					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTGGTTGGGGTCTTCTGTGG	0.403			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(784-786)gaC>gaG		nuclear factor, erythroid 2-like 2							121.0	108.0	112.0					2																	178096545		1906	4143	6049	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178096545G>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.786C>G	2.37:g.178096545G>C	ENSP00000380252:p.Asp262Glu	HNSCC(56;0.16)				NFE2L2_ENST00000397063.4_Missense_Mutation_p.D246E|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D246E|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D239E	p.D262E	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	1340	-			262					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.786C>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873905	0.51695	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000430047	T;T;T;T;T	0.57595	2.31;2.31;2.31;1.93;0.39	6.17	1.9	0.25705	.	0.707266	0.14744	N	0.301034	T	0.44477	0.1295	M	0.72118	2.19	0.47994	D	0.99956	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.39292	-0.9621	10	0.45353	T	0.12	.	1.076	0.01632	0.2824:0.189:0.3859:0.1427	.	239;262	E9PGJ7;Q16236	.;NF2L2_HUMAN	E	246;262;239;246;59	ENSP00000380253:D246E;ENSP00000380252:D262E;ENSP00000411575:D239E;ENSP00000400073:D246E;ENSP00000391291:D59E	ENSP00000380252:D262E	D	-	3	2	NFE2L2	177804791	0.920000	0.31207	0.879000	0.34478	0.998000	0.95712	0.564000	0.23563	0.020000	0.15106	0.655000	0.94253	GAC		0.403	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		10	41	0	0	0	0.008291	0	10	41				
FANCD2	2177	broad.mit.edu	37	3	10122836	10122836	+	Missense_Mutation	SNP	A	A	G	rs376836572		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:10122836A>G	ENST00000419585.1	+	31	3190	c.3029A>G	c.(3028-3030)cAa>cGa	p.Q1010R	FANCD2_ENST00000383806.1_Missense_Mutation_p.Q1010R|FANCD2OS_ENST00000436517.1_5'Flank|FANCD2_ENST00000287647.3_Missense_Mutation_p.Q1010R|FANCD2_ENST00000383807.1_Missense_Mutation_p.Q1010R			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1010					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGATCTGCCCAAGAAATTGTT	0.408			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3028-3030)cAa>cGa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2		A	ARG/GLN,ARG/GLN	1,4405	2.1+/-5.4	0,1,2202	124.0	128.0	127.0		3029,3029	-1.3	0.1	3		127	0,8600		0,0,4300	no	missense,missense	FANCD2	NM_001018115.1,NM_033084.3	43,43	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign	1010/1452,1010/1472	10122836	1,13005	2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10122836A>G	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3029A>G	3.37:g.10122836A>G	ENSP00000398754:p.Gln1010Arg					FANCD2_ENST00000383806.1_Missense_Mutation_p.Q1010R|FANCD2_ENST00000419585.1_Missense_Mutation_p.Q1010R|FANCD2_ENST00000383807.1_Missense_Mutation_p.Q1010R	p.Q1010R	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	31	3122	+			1010					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3029A>G	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.361035	0.24684	2.27E-4	0.0	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.94	-1.33	0.09172	.	0.580196	0.19933	N	0.102806	T	0.31638	0.0803	L	0.48362	1.52	0.09310	N	1	P;B	0.40211	0.707;0.158	B;B	0.40066	0.318;0.076	T	0.21518	-1.0243	10	0.20046	T	0.44	.	3.3617	0.07189	0.3874:0.4014:0.0898:0.1215	.	1010;1010	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	R	1010	ENSP00000287647:Q1010R;ENSP00000373318:Q1010R;ENSP00000373317:Q1010R;ENSP00000398754:Q1010R	ENSP00000287647:Q1010R	Q	+	2	0	FANCD2	10097836	0.001000	0.12720	0.067000	0.19924	0.707000	0.40811	1.423000	0.34837	-0.438000	0.07232	0.529000	0.55759	CAA		0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			18	46	0	0	0	0.007413	0	18	46				
RFX5	5993	broad.mit.edu	37	1	151316211	151316211	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:151316211G>T	ENST00000290524.4	-	9	881	c.703C>A	c.(703-705)Ctc>Atc	p.L235I	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000368870.2_Missense_Mutation_p.L235I|RFX5_ENST00000452513.2_Missense_Mutation_p.L195I|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452671.2_Missense_Mutation_p.L235I	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	235					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGAGATGAGATGCTGCTGT	0.582																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(703-705)Ctc>Atc		regulatory factor X, 5 (influences HLA class II expression)							90.0	79.0	82.0					1																	151316211		2203	4300	6503	SO:0001583	missense	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151316211G>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.703C>A	1.37:g.151316211G>T	ENSP00000290524:p.Leu235Ile					RFX5_ENST00000452671.2_Missense_Mutation_p.L235I|RFX5_ENST00000368870.2_Missense_Mutation_p.L235I|RFX5_ENST00000452513.2_Missense_Mutation_p.L195I	p.L235I	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	881	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		235					B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	c.703C>A	CCDS994.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466745	0.63625	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T;T	0.73469	0.25;0.25;-0.75;0.25;0.25;0.26	6.08	6.08	0.98989	.	0.059623	0.64402	D	0.000002	T	0.61464	0.2349	L	0.53249	1.67	0.39560	D	0.969118	P;P	0.48503	0.911;0.849	B;B	0.42386	0.382;0.386	T	0.61312	-0.7088	10	0.25106	T	0.35	-12.9091	14.922	0.70847	0.0:0.0:0.8563:0.1436	.	195;235	B7Z848;P48382	.;RFX5_HUMAN	I	235;235;127;235;195;235	ENSP00000290524:L235I;ENSP00000357864:L235I;ENSP00000390769:L127I;ENSP00000389130:L235I;ENSP00000398388:L195I;ENSP00000376502:L235I	ENSP00000290524:L235I	L	-	1	0	RFX5	149582835	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	2.073000	0.41519	2.894000	0.99253	0.655000	0.94253	CTC		0.582	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		35	110	1	0	2.20262e-25	0.013726	2.79959e-25	35	110				
HLA-DMB	3109	broad.mit.edu	37	6	32906490	32906490	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:32906490G>A	ENST00000418107.2	-	2	570	c.308C>T	c.(307-309)cCc>cTc	p.P103L	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.P135L|AL645941.1_ENST00000390777.1_RNA|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.P103L	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	103	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCCCCAGAAGGGCTGGGTGTG	0.572																																						ENST00000416244.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(307-309)cCc>cTc		major histocompatibility complex, class II, DM beta							120.0	122.0	121.0					6																	32906490		1510	2708	4218	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32906490G>A		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.308C>T	6.37:g.32906490G>A	ENSP00000398890:p.Pro103Leu					HLA-DMB_ENST00000418107.2_Missense_Mutation_p.P103L|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.P135L	p.P103L			P28068	DMB_HUMAN			2	502	-			103			Beta-1.		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.308C>T	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165375	0.78339	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.24151	1.87;1.87;1.87	5.07	5.07	0.68467	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.925393	0.09124	N	0.845336	T	0.37320	0.0999	M	0.61703	1.905	0.48236	D	0.999611	P;D;D	0.63880	0.832;0.993;0.983	P;P;D	0.63283	0.575;0.85;0.913	T	0.01600	-1.1315	9	.	.	.	.	13.823	0.63333	0.0:0.0:1.0:0.0	.	103;103;112	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	L	103;103;103;135	ENSP00000398890:P103L;ENSP00000391010:P103L;ENSP00000412457:P135L	.	P	-	2	0	XXbac-BPG181M17.5;HLA-DMB	33014468	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.683000	0.46943	2.631000	0.89168	0.637000	0.83480	CCC		0.572	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		25	77	0	0	0	0.018920	0	25	77				
TRRAP	8295	broad.mit.edu	37	7	98608797	98608797	+	Silent	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:98608797C>A	ENST00000359863.4	+	70	11228	c.11019C>A	c.(11017-11019)acC>acA	p.T3673T	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Silent_p.T3662T|TRRAP_ENST00000355540.3_Silent_p.T3644T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3673	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGATGTTCACCATCCAGCTGG	0.537																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(11017-11019)acC>acA		transformation/transcription domain-associated protein							117.0	108.0	111.0					7																	98608797		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98608797C>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11019C>A	7.37:g.98608797C>A						TRRAP_ENST00000355540.3_Silent_p.T3644T|TRRAP_ENST00000446306.3_Silent_p.T3662T	p.T3673T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		70	11228	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3673			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.11019C>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239641	0.22711	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.53	4.57	0.56435	.	.	.	.	.	T	0.61198	0.2328	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57923	-0.7727	4	.	.	.	.	10.5572	0.45125	0.2143:0.7133:0.0:0.0724	.	.	.	.	Q	3402	.	.	P	+	2	0	TRRAP	98446733	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.815000	0.27253	2.608000	0.88229	0.561000	0.74099	CCA		0.537	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		20	73	1	0	1.96895e-08	0.016522	2.23147e-08	20	73				
SETD2	29072	broad.mit.edu	37	3	47162207	47162207	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:47162207C>G	ENST00000409792.3	-	3	3961	c.3919G>C	c.(3919-3921)Gat>Cat	p.D1307H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1307					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GATCTTGGATCCCAGTAACCA	0.473			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(3919-3921)Gat>Cat		SET domain containing 2							116.0	102.0	107.0					3																	47162207		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162207C>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3919G>C	3.37:g.47162207C>G	ENSP00000386759:p.Asp1307His						p.D1307H	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	3961	-		Acute lymphoblastic leukemia(5;0.0169)	1307					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.3919G>C	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190044	0.58017	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.91180	-2.8;0.79	5.16	5.16	0.70880	Ferritin/ribonucleotide reductase-like (1);	0.000000	0.64402	D	0.000013	D	0.92140	0.7508	L	0.29908	0.895	0.48452	D	0.999658	D;D	0.76494	0.999;0.996	D;P	0.64506	0.926;0.891	D	0.93150	0.6549	10	0.87932	D	0	.	18.8265	0.92121	0.0:1.0:0.0:0.0	.	1307;1307	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	1307;1307;1307;1263	ENSP00000386759:D1307H;ENSP00000416401:D1263H	ENSP00000386759:D1307H	D	-	1	0	SETD2	47137211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.368000	0.66133	2.688000	0.91661	0.563000	0.77884	GAT		0.473	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		10	31	0	0	0	0.013537	0	10	31				
KEAP1	9817	broad.mit.edu	37	19	10597411	10597411	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:10597411T>C	ENST00000171111.5	-	6	2339	c.1792A>G	c.(1792-1794)Aca>Gca	p.T598A	KEAP1_ENST00000393623.2_Missense_Mutation_p.T598A	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	598					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)	CGGCCCGATGTCATTCGGGTC	0.567																																						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.(1792-1794)Aca>Gca		kelch-like ECH-associated protein 1							114.0	105.0	108.0					19																	10597411		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10597411T>C	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.1792A>G	19.37:g.10597411T>C	ENSP00000171111:p.Thr598Ala					KEAP1_ENST00000393623.2_Missense_Mutation_p.T598A	p.T598A	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)		6	2339	-			598					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1792A>G	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.861097	0.32884	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.65916	-0.18;-0.18	5.9	5.9	0.94986	Kelch-type beta propeller (1);	0.046444	0.85682	D	0.000000	T	0.45577	0.1349	N	0.13003	0.285	0.48975	D	0.999731	B	0.17268	0.021	B	0.19391	0.025	T	0.37888	-0.9686	10	0.21014	T	0.42	.	14.3187	0.66470	0.0:0.0:0.0:1.0	.	598	Q14145	KEAP1_HUMAN	A	598	ENSP00000171111:T598A;ENSP00000377245:T598A	ENSP00000171111:T598A	T	-	1	0	KEAP1	10458411	1.000000	0.71417	0.998000	0.56505	0.012000	0.07955	5.443000	0.66581	2.268000	0.75426	0.454000	0.30748	ACA		0.567	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		47	44	0	0	0	0.014410	0	47	44				
SLC23A2	9962	broad.mit.edu	37	20	4880210	4880210	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr20:4880210A>G	ENST00000379333.1	-	6	865	c.473T>C	c.(472-474)tTt>tCt	p.F158S	SLC23A2_ENST00000338244.1_Missense_Mutation_p.F158S|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Missense_Mutation_p.F158S	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	158					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTGCATCCAAACGTTGTCTG	0.552																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(472-474)tTt>tCt		solute carrier family 23 (ascorbic acid transporter), member 2							232.0	218.0	223.0					20																	4880210		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4880210A>G	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.473T>C	20.37:g.4880210A>G	ENSP00000368637:p.Phe158Ser					SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.F158S|SLC23A2_ENST00000424750.2_Missense_Mutation_p.F158S	p.F158S	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			6	865	-			158					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.473T>C	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.528016	0.44969	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.19250	2.16;2.16;2.16	5.11	5.11	0.69529	.	0.104012	0.64402	D	0.000003	T	0.51261	0.1664	M	0.89414	3.03	0.34022	D	0.65273	D;P;P	0.69078	0.997;0.626;0.626	D;P;P	0.69142	0.962;0.505;0.505	T	0.71935	-0.4442	10	0.87932	D	0	-16.6381	13.7322	0.62794	1.0:0.0:0.0:0.0	.	158;158;158	B4DJZ1;A0MSJ5;Q9UGH3	.;.;S23A2_HUMAN	S	158	ENSP00000368637:F158S;ENSP00000344322:F158S;ENSP00000406601:F158S	ENSP00000344322:F158S	F	-	2	0	SLC23A2	4828210	1.000000	0.71417	0.972000	0.41901	0.497000	0.33675	9.324000	0.96373	1.902000	0.55061	0.379000	0.24179	TTT		0.552	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			71	176	0	0	0	0.014410	0	71	176				
DCTN1	1639	broad.mit.edu	37	2	74592723	74592723	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:74592723G>A	ENST00000361874.3	-	25	3265	c.2948C>T	c.(2947-2949)gCt>gTt	p.A983V	DCTN1_ENST00000407639.2_Missense_Mutation_p.A849V|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409438.1_Missense_Mutation_p.A849V|DCTN1_ENST00000409240.1_Missense_Mutation_p.A946V|DCTN1_ENST00000394003.3_Missense_Mutation_p.A976V|DCTN1_ENST00000409567.3_Missense_Mutation_p.A963V|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409868.1_Missense_Mutation_p.A966V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	983					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ATCCTTGGCAGCACTGTCCAA	0.567																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2947-2949)gCt>gTt		dynactin 1							114.0	103.0	107.0					2																	74592723		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74592723G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2948C>T	2.37:g.74592723G>A	ENSP00000354791:p.Ala983Val					DCTN1_ENST00000409240.1_Missense_Mutation_p.A946V|DCTN1_ENST00000409438.1_Missense_Mutation_p.A849V|DCTN1_ENST00000409868.1_Missense_Mutation_p.A966V|DCTN1_ENST00000394003.3_Missense_Mutation_p.A976V|DCTN1_ENST00000409567.3_Missense_Mutation_p.A963V|DCTN1_ENST00000407639.2_Missense_Mutation_p.A849V	p.A983V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			25	3265	-			983					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2948C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054000	0.93793	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.22	5.22	0.72569	.	0.000000	0.43110	D	0.000620	D	0.82651	0.5083	L	0.42245	1.32	0.58432	D	0.999997	P;P;P;B;P;P	0.50943	0.835;0.488;0.455;0.06;0.94;0.59	B;B;B;B;P;B	0.52823	0.394;0.114;0.117;0.065;0.71;0.232	T	0.83334	-0.0011	10	0.52906	T	0.07	-7.0498	17.7172	0.88341	0.0:0.0:1.0:0.0	.	963;946;983;976;849;849	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	V	983;976;966;849;849;946;966;963	ENSP00000354791:A983V;ENSP00000377571:A976V;ENSP00000384844:A849V;ENSP00000387270:A849V;ENSP00000386406:A946V;ENSP00000387327:A966V;ENSP00000386843:A963V	ENSP00000354791:A983V	A	-	2	0	DCTN1	74446231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.179000	0.94861	2.714000	0.92807	0.561000	0.74099	GCT		0.567	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		3	63	0	0	0	0.004672	0	3	63				
POTEE	445582	broad.mit.edu	37	2	131976382	131976382	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:131976382G>A	ENST00000356920.5	+	1	501	c.407G>A	c.(406-408)cGt>cAt	p.R136H	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R136H|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	136					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TACCACGTCCGTGGAGAAGAT	0.592																																						ENST00000356920.5																			0											c.(406-408)cGt>cAt		POTE ankyrin domain family, member E							64.0	67.0	66.0					2																	131976382		2202	4300	6502	SO:0001583	missense	445582						ATP binding	g.chr2:131976382G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.407G>A	2.37:g.131976382G>A	ENSP00000439189:p.Arg136His					POTEE_ENST00000358087.5_Missense_Mutation_p.R136H|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	p.R136H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	501	+			136					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.407G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	11.23	1.578417	0.28180	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.53206	0.63;0.63	1.05	-2.11	0.07187	.	.	.	.	.	T	0.32645	0.0836	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	P	0.47744	0.556	T	0.16778	-1.0391	9	0.44086	T	0.13	.	2.6334	0.04951	0.2337:0.3068:0.4596:0.0	.	136	Q6S8J3	POTEE_HUMAN	H	136	ENSP00000439189:R136H;ENSP00000443049:R136H	ENSP00000439189:R136H	R	+	2	0	AC131180.1	131692852	0.000000	0.05858	0.002000	0.10522	0.096000	0.18686	-0.035000	0.12205	-0.514000	0.06488	-1.597000	0.00832	CGT		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		29	78	0	0	0	0.023175	0	29	78				
ATP2B4	493	broad.mit.edu	37	1	203682333	203682333	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:203682333G>C	ENST00000357681.5	+	14	3375	c.2252G>C	c.(2251-2253)cGg>cCg	p.R751P	ATP2B4_ENST00000391954.2_Missense_Mutation_p.R751P|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R751P|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R739P|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R751P	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	751					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTAAGCTTCGGGTCCTGGCG	0.537																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(2251-2253)cGg>cCg		ATPase, Ca++ transporting, plasma membrane 4							202.0	188.0	193.0					1																	203682333		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203682333G>C	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2252G>C	1.37:g.203682333G>C	ENSP00000350310:p.Arg751Pro					ATP2B4_ENST00000367219.3_Missense_Mutation_p.R739P|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R751P|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R751P|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R751P	p.R751P	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		14	3375	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		751					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.2252G>C	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085589	0.94100	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.2	5.2	0.72013	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.40818	N	0.001015	D	0.98086	0.9369	M	0.88640	2.97	0.80722	D	1	D;P;D	0.89917	1.0;0.938;0.999	D;P;D	0.91635	0.999;0.784;0.997	D	0.99100	1.0843	10	0.87932	D	0	-15.8892	18.3579	0.90364	0.0:0.0:1.0:0.0	.	751;751;751	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	P	751;751;739;751;751	ENSP00000350310:R751P;ENSP00000356187:R751P;ENSP00000356188:R739P;ENSP00000375816:R751P;ENSP00000340930:R751P	ENSP00000340930:R751P	R	+	2	0	ATP2B4	201948956	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.835000	0.99442	2.429000	0.82318	0.650000	0.86243	CGG		0.537	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		26	110	0	0	0	0.024334	0	26	110				
MAP1A	4130	broad.mit.edu	37	15	43821107	43821107	+	Missense_Mutation	SNP	G	G	A	rs201705385		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr15:43821107G>A	ENST00000300231.5	+	4	7886	c.7436G>A	c.(7435-7437)cGg>cAg	p.R2479Q	MAP1A_ENST00000399453.1_Missense_Mutation_p.R2479Q|MAP1A_ENST00000382031.1_Missense_Mutation_p.R2717Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2479					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGGGGGGCGGCGCCGGGTA	0.622																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(8149-8151)cGg>cAg		microtubule-associated protein 1A	Estramustine(DB01196)	G	GLN/ARG	1,3707		0,1,1853	31.0	34.0	33.0		7436	4.9	1.0	15		33	1,8131		0,1,4065	no	missense	MAP1A	NM_002373.5	43	0,2,5918	AA,AG,GG		0.0123,0.027,0.0169	benign	2479/2804	43821107	2,11838	1854	4066	5920	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821107G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7436G>A	15.37:g.43821107G>A	ENSP00000300231:p.Arg2479Gln					MAP1A_ENST00000300231.5_Missense_Mutation_p.R2479Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2479Q	p.R2717Q			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	8181	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2479					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.8150G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	6.528	0.465568	0.12402	2.7E-4	1.23E-4	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01464	4.86;4.86;4.86	4.9	4.9	0.64082	.	.	.	.	.	T	0.01835	0.0058	L	0.32530	0.975	0.26182	N	0.979717	B	0.23540	0.087	B	0.15870	0.014	T	0.43507	-0.9387	9	0.28530	T	0.3	-5.3377	8.7604	0.34672	0.0:0.2729:0.5848:0.1424	.	2479	P78559	MAP1A_HUMAN	Q	2717;2479;2479	ENSP00000371462:R2717Q;ENSP00000382380:R2479Q;ENSP00000300231:R2479Q	ENSP00000300231:R2479Q	R	+	2	0	MAP1A	41608399	0.957000	0.32711	0.995000	0.50966	0.075000	0.17131	2.228000	0.42981	2.544000	0.85801	0.462000	0.41574	CGG		0.622	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		17	33	0	0	0	0.007413	0	17	33				
CD5L	922	broad.mit.edu	37	1	157811469	157811469	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:157811469A>G	ENST00000368174.4	-	1	119	c.23T>C	c.(22-24)aTc>aCc	p.I8T	CD5L_ENST00000484609.1_Intron	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	8					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCACCAAGGATCAAGGAGAA	0.453																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(22-24)aTc>aCc		CD5 molecule-like							122.0	103.0	109.0					1																	157811469		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157811469A>G	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.23T>C	1.37:g.157811469A>G	ENSP00000357156:p.Ile8Thr					CD5L_ENST00000484609.1_Intron	p.I8T	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		1	119	-	all_hematologic(112;0.0378)		8					A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.23T>C	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	A	7.304	0.613595	0.14066	.	.	ENSG00000073754	ENST00000368174	T	0.01538	4.79	4.19	4.19	0.49359	.	2.186230	0.02137	N	0.056830	T	0.01421	0.0046	N	0.25647	0.755	0.24173	N	0.995619	D	0.54047	0.964	P	0.50314	0.637	T	0.50651	-0.8803	10	0.62326	D	0.03	.	9.9348	0.41545	1.0:0.0:0.0:0.0	.	8	O43866	CD5L_HUMAN	T	8	ENSP00000357156:I8T	ENSP00000357156:I8T	I	-	2	0	CD5L	156078093	1.000000	0.71417	0.991000	0.47740	0.725000	0.41563	3.181000	0.50903	2.119000	0.64992	0.533000	0.62120	ATC		0.453	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		5	25	0	0	0	0.014758	0	5	25				
NOL8	55035	broad.mit.edu	37	9	95064013	95064013	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr9:95064013C>G	ENST00000535387.1	-	11	2880	c.2881G>C	c.(2881-2883)Gaa>Caa	p.E961Q	NOL8_ENST00000545558.1_Missense_Mutation_p.E999Q|NOL8_ENST00000358855.4_Missense_Mutation_p.E931Q|NOL8_ENST00000442668.2_Missense_Mutation_p.E999Q|NOL8_ENST00000542053.1_Missense_Mutation_p.E931Q					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGGAATATTTCTTTCAGATCC	0.388																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(2995-2997)Gaa>Caa		nucleolar protein 8							66.0	60.0	62.0					9																	95064013		1836	4073	5909	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95064013C>G	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2881G>C	9.37:g.95064013C>G	ENSP00000441300:p.Glu961Gln					NOL8_ENST00000542053.1_Missense_Mutation_p.E931Q|NOL8_ENST00000442668.2_Missense_Mutation_p.E999Q|NOL8_ENST00000358855.4_Missense_Mutation_p.E931Q|NOL8_ENST00000535387.1_Missense_Mutation_p.E961Q	p.E999Q			Q76FK4	NOL8_HUMAN			13	3487	-			999						Missense_Mutation	SNP	ENST00000535387.1	37	c.2995G>C	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270871	0.59540	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	6.16	5.27	0.74061	.	0.362265	0.32852	N	0.005570	T	0.27967	0.0689	L	0.35414	1.06	0.47153	D	0.99933	B;P	0.37122	0.319;0.583	B;B	0.29942	0.106;0.109	T	0.03077	-1.1075	10	0.35671	T	0.21	-12.83	16.9637	0.86280	0.0:0.8645:0.1355:0.0	.	931;999	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	Q	999;963;931;999;961;931	ENSP00000401177:E999Q;ENSP00000351723:E931Q;ENSP00000441140:E999Q;ENSP00000441300:E961Q;ENSP00000440709:E931Q	ENSP00000351723:E931Q	E	-	1	0	NOL8	94103834	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.882000	0.48546	1.625000	0.50366	0.650000	0.86243	GAA		0.388	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		5	11	0	0	0	0.014758	0	5	11				
DCAF12L1	139170	broad.mit.edu	37	X	125685719	125685719	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:125685719G>A	ENST00000371126.1	-	1	1115	c.873C>T	c.(871-873)gcC>gcT	p.A291A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	291										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GTGCGCTCCCGGCTTTCCACA	0.607																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(871-873)gcC>gcT		DDB1 and CUL4 associated factor 12-like 1							57.0	54.0	55.0					X																	125685719		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685719G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.873C>T	X.37:g.125685719G>A							p.A291A	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1115	-			291					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.873C>T	CCDS14610.1																																																																																				0.607	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		15	30	0	0	0	0.024245	0	15	30				
BRSK1	84446	broad.mit.edu	37	19	55823324	55823324	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:55823324G>A	ENST00000309383.1	+	19	2502	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	BRSK1_ENST00000326848.7_Missense_Mutation_p.R437Q|BRSK1_ENST00000590333.1_Missense_Mutation_p.R758Q|CTD-2105E13.14_ENST00000596786.1_RNA	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	742					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCCCACCCCGAAGCCTGCAG	0.697																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(2224-2226)cGa>cAa		BR serine/threonine kinase 1							12.0	14.0	14.0					19																	55823324		2161	4235	6396	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55823324G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.2225G>A	19.37:g.55823324G>A	ENSP00000310649:p.Arg742Gln					BRSK1_ENST00000590333.1_Missense_Mutation_p.R758Q|BRSK1_ENST00000326848.7_Missense_Mutation_p.R437Q	p.R742Q	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	19	2502	+		Renal(1328;0.245)	742					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.2225G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	18.47	3.630320	0.67015	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.72835	-0.69;1.84	4.92	4.92	0.64577	.	0.568091	0.15434	N	0.262570	T	0.80675	0.4668	L	0.50333	1.59	0.35664	D	0.812749	D;D	0.69078	0.994;0.997	P;D	0.66847	0.885;0.947	D	0.84781	0.0773	10	0.66056	D	0.02	.	17.2563	0.87057	0.0:0.0:1.0:0.0	.	742;758	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	Q	742;437;437	ENSP00000310649:R742Q;ENSP00000320853:R437Q	ENSP00000310649:R742Q	R	+	2	0	BRSK1	60515136	0.997000	0.39634	1.000000	0.80357	0.805000	0.45488	2.922000	0.48860	2.458000	0.83093	0.549000	0.68633	CGA		0.697	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		5	17	0	0	0	0.014758	0	5	17				
PCDHGB6	56100	broad.mit.edu	37	5	140788292	140788292	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:140788292A>C	ENST00000520790.1	+	1	523	c.523A>C	c.(523-525)Aat>Cat	p.N175H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAAACTCTAATCCTTATTT	0.388																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(523-525)Aat>Cat									22.0	22.0	22.0					5																	140788292		1811	4083	5894	SO:0001583	missense	56100							g.chr5:140788292A>C	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.523A>C	5.37:g.140788292A>C	ENSP00000428603:p.Asn175His					PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	p.N175H	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	523	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.523A>C	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	a	14.55	2.569595	0.45798	.	.	ENSG00000253305	ENST00000520790	T	0.51071	0.72	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70263	0.3204	M	0.87758	2.905	0.40127	D	0.976674	P;D	0.89917	0.925;1.0	P;D	0.75484	0.803;0.986	T	0.76440	-0.2958	9	0.87932	D	0	.	10.5189	0.44907	0.9221:0.0:0.0779:0.0	.	175;175	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	H	175	ENSP00000428603:N175H	ENSP00000428603:N175H	N	+	1	0	PCDHGB6	140768476	0.081000	0.21417	0.552000	0.28243	0.987000	0.75469	3.743000	0.55104	2.024000	0.59613	0.383000	0.25322	AAT		0.388	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		10	7	0	0	0	0.006214	0	10	7				
TCEANC2	127428	broad.mit.edu	37	1	54562121	54562121	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:54562121C>T	ENST00000234827.1	+	5	802	c.602C>T	c.(601-603)aCg>aTg	p.T201M	TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.T231M	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	201	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|lung(3)|pancreas(1)	5						CCAGTCGGCACGTTTGTACAG	0.582																																						ENST00000234827.1																			0				kidney(1)|lung(3)|pancreas(1)	5						c.(601-603)aCg>aTg		transcription elongation factor A (SII) N-terminal and central domain containing 2							36.0	40.0	39.0					1																	54562121		2203	4300	6503	SO:0001583	missense	127428				transcription, DNA-dependent	nucleus	DNA binding	g.chr1:54562121C>T	AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.602C>T	1.37:g.54562121C>T	ENSP00000234827:p.Thr201Met					TCEANC2_ENST00000371331.1_Missense_Mutation_p.T231M|TCEANC2_ENST00000498272.1_3'UTR	p.T201M	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN			5	802	+			201			TFIIS central.		Q5T702|Q8N8N2	Missense_Mutation	SNP	ENST00000234827.1	37	c.602C>T	CCDS587.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205144	0.39003	.	.	ENSG00000116205	ENST00000234827;ENST00000371331	T;T	0.42900	0.96;0.96	5.34	5.34	0.76211	Transcription elongation factor S-II, central domain (3);	0.555420	0.20130	N	0.098619	T	0.29491	0.0735	N	0.14661	0.345	0.28415	N	0.91801	P	0.47409	0.895	B	0.41813	0.367	T	0.18429	-1.0337	10	0.52906	T	0.07	-6.3423	13.9506	0.64113	0.1518:0.8482:0.0:0.0	.	201	Q96MN5	TEAN2_HUMAN	M	201;231	ENSP00000234827:T201M;ENSP00000360382:T231M	ENSP00000234827:T201M	T	+	2	0	TCEANC2	54334709	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.060000	0.41394	2.522000	0.85027	0.563000	0.77884	ACG		0.582	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023245.1	NM_153035		7	53	0	0	0	0.003080	0	7	53				
ZNF709	163051	broad.mit.edu	37	19	12575387	12575387	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:12575387C>A	ENST00000397732.3	-	4	1520	c.1349G>T	c.(1348-1350)tGt>tTt	p.C450F	ZNF709_ENST00000428311.1_Missense_Mutation_p.C450F|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACACTGTTTACATTCATAGGG	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1348-1350)tGt>tTt		zinc finger protein 709							102.0	108.0	106.0					19																	12575387		2203	4297	6500	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575387C>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1349G>T	19.37:g.12575387C>A	ENSP00000380840:p.Cys450Phe					ZNF709_ENST00000428311.1_Missense_Mutation_p.C450F|CTD-3105H18.18_ENST00000598753.1_Intron	p.C450F	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1520	-			450					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1349G>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327393	0.81690	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	D;D	0.85088	-1.94;-1.94	3.05	3.05	0.35203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36854	N	0.002362	D	0.95089	0.8409	H	0.98446	4.235	0.40715	D	0.982605	D	0.89917	1.0	D	0.97110	1.0	D	0.96872	0.9640	10	0.87932	D	0	.	13.9868	0.64341	0.0:1.0:0.0:0.0	.	450	Q8N972	ZN709_HUMAN	F	450	ENSP00000380840:C450F;ENSP00000404127:C450F	ENSP00000404127:C450F	C	-	2	0	ZNF709;CTD-2192J16.17	12436387	0.999000	0.42202	0.065000	0.19835	0.862000	0.49288	4.723000	0.61965	2.032000	0.59987	0.591000	0.81541	TGT		0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		27	82	1	0	4.87955e-14	0.027356	5.7706e-14	27	82				
APOBEC3B	9582	broad.mit.edu	37	22	39387518	39387518	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr22:39387518A>G	ENST00000333467.3	+	6	950	c.905A>G	c.(904-906)cAc>cGc	p.H302R	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.H302R|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.H277R|APOBEC3B-AS1_ENST00000513758.2_RNA	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	302					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GAGAACACACACGTGAGACTG	0.597																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(904-906)cAc>cGc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							136.0	135.0	135.0					22																	39387518		2199	4283	6482	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39387518A>G	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.905A>G	22.37:g.39387518A>G	ENSP00000327459:p.His302Arg					APOBEC3B_ENST00000333467.3_Missense_Mutation_p.H302R|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.H277R	p.H302R			Q9UH17	ABC3B_HUMAN			6	960	+	Melanoma(58;0.04)		302					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.905A>G	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	12.67	2.008756	0.35415	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.62105	0.05;0.05;0.05	2.0	0.936	0.19488	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.70692	0.3253	M	0.62723	1.935	0.09310	N	1	D;B	0.89917	1.0;0.029	D;B	0.79784	0.993;0.093	T	0.56335	-0.7996	9	0.51188	T	0.08	.	5.1183	0.14847	0.8294:0.0:0.1706:0.0	.	277;302	B0QYD2;Q9UH17	.;ABC3B_HUMAN	R	277;302;302	ENSP00000385068:H277R;ENSP00000385060:H302R;ENSP00000327459:H302R	ENSP00000327459:H302R	H	+	2	0	APOBEC3B	37717464	0.172000	0.23043	0.014000	0.15608	0.030000	0.12068	1.842000	0.39250	0.222000	0.20900	0.334000	0.21626	CAC		0.597	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		14	212	0	0	0	0.004990	0	14	212				
COPS7B	64708	broad.mit.edu	37	2	232653363	232653363	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:232653363C>A	ENST00000350033.3	+	2	224	c.83C>A	c.(82-84)aCt>aAt	p.T28N	COPS7B_ENST00000409295.1_Intron|COPS7B_ENST00000373608.3_Missense_Mutation_p.T28N|COPS7B_ENST00000409091.1_Intron|COPS7B_ENST00000410024.1_Missense_Mutation_p.T28N|COPS7B_ENST00000410017.1_Missense_Mutation_p.T28N	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	28					cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TCAGCCCTCACTGCTCTCATA	0.498																																						ENST00000373608.3																			0				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8						c.(82-84)aCt>aAt		COP9 signalosome subunit 7B							83.0	85.0	84.0					2																	232653363		2203	4300	6503	SO:0001583	missense	64708				cullin deneddylation	cytoplasm|signalosome		g.chr2:232653363C>A	AK022674	CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1	2q37.1	2013-03-14	2013-03-14		ENSG00000144524	ENSG00000144524			16760	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B"", ""COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)"""			9707402	Standard	NM_001282950		Approved	CSN7B	uc002vsg.1	Q9H9Q2	OTTHUMG00000133228	ENST00000350033.3:c.83C>A	2.37:g.232653363C>A	ENSP00000272995:p.Thr28Asn					COPS7B_ENST00000409091.1_Intron|COPS7B_ENST00000410024.1_Missense_Mutation_p.T28N|COPS7B_ENST00000409295.1_Intron|COPS7B_ENST00000410017.1_Missense_Mutation_p.T28N|COPS7B_ENST00000350033.3_Missense_Mutation_p.T28N	p.T28N			Q9H9Q2	CSN7B_HUMAN		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	190	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)	28					Q53S22|Q5BJG3|Q9H7V6	Missense_Mutation	SNP	ENST00000350033.3	37	c.83C>A	CCDS2488.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303671	0.81136	.	.	ENSG00000144524	ENST00000410024;ENST00000350033;ENST00000412591;ENST00000410017;ENST00000373608	T;T;T;T	0.46819	0.92;0.92;0.86;0.87	5.06	5.06	0.68205	.	0.107047	0.64402	D	0.000004	T	0.50411	0.1614	L	0.49126	1.545	0.46203	D	0.998923	P;B	0.37398	0.593;0.308	B;B	0.42692	0.395;0.087	T	0.42699	-0.9436	10	0.30078	T	0.28	-8.1401	18.6105	0.91283	0.0:1.0:0.0:0.0	.	28;28	Q9H9Q2-3;Q9H9Q2	.;CSN7B_HUMAN	N	28	ENSP00000386567:T28N;ENSP00000272995:T28N;ENSP00000386880:T28N;ENSP00000362710:T28N	ENSP00000272995:T28N	T	+	2	0	COPS7B	232361607	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.060000	0.57477	2.612000	0.88384	0.563000	0.77884	ACT		0.498	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256964.2	NM_022730		29	41	1	0	8.58068e-18	0.007291	1.03272e-17	29	41				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	39	0	0	0	0.004672	0	3	39				
ZNF142	7701	broad.mit.edu	37	2	219510940	219510940	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:219510940T>A	ENST00000449707.1	-	7	1826	c.1405A>T	c.(1405-1407)Aag>Tag	p.K469*	ZNF142_ENST00000411696.2_Nonsense_Mutation_p.K469*	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGTAGTGCTTCCACTTGGTG	0.517																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1405-1407)Aag>Tag		zinc finger protein 142							224.0	218.0	220.0					2																	219510940		2149	4247	6396	SO:0001587	stop_gained	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219510940T>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1405A>T	2.37:g.219510940T>A	ENSP00000408643:p.Lys469*					ZNF142_ENST00000449707.1_Nonsense_Mutation_p.K469*	p.K469*			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	2184	-		Renal(207;0.0474)	469					Q92510	Nonsense_Mutation	SNP	ENST00000449707.1	37	c.1405A>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	T	46	12.211584	0.99647	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9575	15.217	0.73277	0.0:0.0:0.0:1.0	.	.	.	.	X	469	.	ENSP00000398798:K469X	K	-	1	0	ZNF142	219219184	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	2.187000	0.69744	0.459000	0.35465	AAG		0.517	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		43	56	0	0	0	0.007835	0	43	56				
USP15	9958	broad.mit.edu	37	12	62715344	62715344	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr12:62715344A>G	ENST00000280377.5	+	5	633	c.575A>G	c.(574-576)aAt>aGt	p.N192S	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.N192S|USP15_ENST00000312635.6_Missense_Mutation_p.N192S|USP15_ENST00000353364.3_Missense_Mutation_p.N192S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	192					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAACCACTGAATAAACCAGAC	0.338																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(574-576)aAt>aGt		ubiquitin specific peptidase 15							79.0	80.0	79.0					12																	62715344		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62715344A>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.575A>G	12.37:g.62715344A>G	ENSP00000280377:p.Asn192Ser					USP15_ENST00000353364.3_Missense_Mutation_p.N192S|USP15_ENST00000393654.3_Missense_Mutation_p.N192S|USP15_ENST00000312635.6_Missense_Mutation_p.N192S|USP15_ENST00000550632.1_3'UTR	p.N192S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	5	633	+			192					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.575A>G	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.380|9.380	1.072691|1.072691	0.20147|0.20147	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000549237|ENST00000353364;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836;ENST00000546694	.|T;T;T	.|0.19394	.|2.16;2.16;2.15	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.046874	.|0.85682	.|D	.|0.000000	T|T	0.14830|0.14830	0.0358|0.0358	N|N	0.20483|0.20483	0.58|0.58	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.15719	.|0.014;0.008;0.002	.|B;B;B	.|0.12156	.|0.007;0.007;0.001	T|T	0.08911|0.08911	-1.0699|-1.0699	5|9	.|.	.|.	.|.	-21.3838|-21.3838	15.4568|15.4568	0.75321|0.75321	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|192;192;192	.|Q9Y4E8;Q9Y4E8-2;Q9H8G9	.|UBP15_HUMAN;.;.	V|S	188|192;192;192;192;138;71	.|ENSP00000258123:N192S;ENSP00000280377:N192S;ENSP00000377264:N192S	.|.	I|N	+|+	1|2	0|0	USP15|USP15	61001611|61001611	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.983000|5.983000	0.70540|0.70540	2.056000|2.056000	0.61249|0.61249	0.528000|0.528000	0.53228|0.53228	ATA|AAT		0.338	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		8	19	0	0	0	0.004482	0	8	19				
CSMD1	64478	broad.mit.edu	37	8	3432474	3432474	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr8:3432474G>A	ENST00000520002.1	-	11	1895	c.1340C>T	c.(1339-1341)cCg>cTg	p.P447L	CSMD1_ENST00000400186.3_Missense_Mutation_p.P447L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P447L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P446L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P446L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P446L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P447L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	447	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCTTGTCCGGGTCGGTGGT	0.522																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(1339-1341)cCg>cTg		CUB and Sushi multiple domains 1							100.0	108.0	105.0					8																	3432474		2000	4184	6184	SO:0001583	missense	64478					integral to membrane		g.chr8:3432474G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1340C>T	8.37:g.3432474G>A	ENSP00000430733:p.Pro447Leu					CSMD1_ENST00000400186.3_Missense_Mutation_p.P447L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P446L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P446L|CSMD1_ENST00000520002.1_Missense_Mutation_p.P447L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P446L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P447L	p.P447L			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	11	1895	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	447			CUB 3.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.1340C>T		.	.	.	.	.	.	.	.	.	.	G	13.30	2.197010	0.38806	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.06	5.06	0.68205	.	.	.	.	.	T	0.38719	0.1051	L	0.59436	1.845	0.58432	D	0.999996	D	0.76494	0.999	D	0.79108	0.992	T	0.05131	-1.0904	9	0.39692	T	0.17	.	17.2099	0.86928	0.0:0.0:1.0:0.0	.	447	E5RIG2	.	L	447;447;309;446;446;446	ENSP00000383047:P447L;ENSP00000430733:P447L;ENSP00000441462:P446L;ENSP00000446243:P446L;ENSP00000441675:P446L	ENSP00000320445:P309L	P	-	2	0	CSMD1	3419882	1.000000	0.71417	0.065000	0.19835	0.100000	0.18952	9.167000	0.94773	2.343000	0.79666	0.655000	0.94253	CCG		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		16	31	0	0	0	0.028581	0	16	31				
RANBP10	57610	broad.mit.edu	37	16	67761784	67761784	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:67761784C>T	ENST00000317506.3	-	12	1605	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	RANBP10_ENST00000536251.1_Missense_Mutation_p.R268Q|RANBP10_ENST00000602677.1_Missense_Mutation_p.R527Q|RANBP10_ENST00000448631.2_Missense_Mutation_p.R471Q|RANBP10_ENST00000411657.2_Missense_Mutation_p.R410Q	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	497					microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GAGCTGCCGCCGAGGATGCCT	0.622																																						ENST00000317506.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1489-1491)cGg>cAg		RAN binding protein 10							34.0	32.0	33.0					16																	67761784		2198	4300	6498	SO:0001583	missense	57610							g.chr16:67761784C>T	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1490G>A	16.37:g.67761784C>T	ENSP00000316589:p.Arg497Gln					RANBP10_ENST00000536251.1_Missense_Mutation_p.R268Q|RANBP10_ENST00000448631.2_Missense_Mutation_p.R471Q|RANBP10_ENST00000602677.1_Missense_Mutation_p.R527Q|RANBP10_ENST00000411657.2_Missense_Mutation_p.R410Q	p.R497Q	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	12	1605	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	497					A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.1490G>A	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889610	0.52014	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.93	4.98	0.66077	.	0.523998	0.21437	N	0.074559	T	0.43700	0.1259	L	0.35854	1.095	0.80722	D	1	B;B;B	0.19583	0.007;0.03;0.037	B;B;B	0.16289	0.003;0.009;0.015	T	0.26916	-1.0089	9	0.15066	T	0.55	-5.5335	10.0217	0.42046	0.0:0.8076:0.0:0.1924	.	410;471;497	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	Q	497;471;268;410	.	ENSP00000316589:R497Q	R	-	2	0	RANBP10	66319285	1.000000	0.71417	0.993000	0.49108	0.828000	0.46876	2.079000	0.41577	1.525000	0.49052	0.563000	0.77884	CGG		0.622	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		12	29	0	0	0	0.010729	0	12	29				
STEAP4	79689	broad.mit.edu	37	7	87910314	87910314	+	Silent	SNP	C	C	T	rs375955638		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:87910314C>T	ENST00000380079.4	-	4	1166	c.1065G>A	c.(1063-1065)ggG>ggA	p.G355G	AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Silent_p.G179G|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	355	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ACAGAAAAAACCCAAGTATTC	0.408																																						ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(1063-1065)ggG>ggA		STEAP family member 4							104.0	102.0	103.0					7																	87910314		1875	4117	5992	SO:0001819	synonymous_variant	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87910314C>T	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.1065G>A	7.37:g.87910314C>T						AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Silent_p.G179G|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA	p.G355G	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN			4	1166	-	Esophageal squamous(14;0.00802)		355			Ferric oxidoreductase.		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Silent	SNP	ENST00000380079.4	37	c.1065G>A	CCDS43611.1																																																																																				0.408	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		19	34	0	0	0	0.006122	0	19	34				
GCM1	8521	broad.mit.edu	37	6	52993147	52993147	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:52993147G>A	ENST00000259803.7	-	6	1379	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	390					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TAGGTGAAGAGAAAGGGGTCT	0.443																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(1168-1170)Ctc>Ttc		glial cells missing homolog 1 (Drosophila)							261.0	260.0	260.0					6																	52993147		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993147G>A	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1168C>T	6.37:g.52993147G>A	ENSP00000259803:p.Leu390Phe						p.L390F	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			6	1379	-	Lung NSC(77;0.0755)		390					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.1168C>T	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049442	0.36181	.	.	ENSG00000137270	ENST00000259803	D	0.83673	-1.75	5.82	4.93	0.64822	.	0.000000	0.64402	D	0.000009	T	0.57080	0.2029	L	0.36672	1.1	0.19945	N	0.999943	P	0.43169	0.8	B	0.34180	0.177	T	0.55315	-0.8160	10	0.52906	T	0.07	-3.7291	8.8844	0.35394	0.0742:0.0:0.7763:0.1495	.	390	Q9NP62	GCM1_HUMAN	F	390	ENSP00000259803:L390F	ENSP00000259803:L390F	L	-	1	0	GCM1	53101106	1.000000	0.71417	0.167000	0.22817	0.192000	0.23643	3.043000	0.49823	1.435000	0.47434	0.655000	0.94253	CTC		0.443	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			13	269	0	0	0	0.013537	0	13	269				
CCT6P1	643253	broad.mit.edu	37	7	65224177	65224177	+	RNA	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:65224177T>C	ENST00000442266.1	+	0	814				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		CTCTTGCTTGTGGTGGGGTGG	0.398																																						ENST00000442266.1																			0																																																			643253							g.chr7:65224177T>C	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65224177T>C														0	814	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.398	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		5	11	0	0	0	0.001984	0	5	11				
CAMTA1	23261	broad.mit.edu	37	1	7798138	7798138	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:7798138C>T	ENST00000303635.7	+	16	3985	c.3778C>T	c.(3778-3780)Ctg>Ttg	p.L1260L	CAMTA1_ENST00000439411.2_Silent_p.L1260L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCAGGAGAAGCTGCTTCCCAC	0.493			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(3778-3780)Ctg>Ttg		calmodulin binding transcription activator 1							73.0	70.0	71.0					1																	7798138		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7798138C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3778C>T	1.37:g.7798138C>T						CAMTA1_ENST00000439411.2_Silent_p.L1260L	p.L1260L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	16	3985	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1260					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.3778C>T	CCDS30576.1																																																																																				0.493	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		9	41	0	0	0	0.004482	0	9	41				
NFATC2IP	84901	broad.mit.edu	37	16	28975123	28975123	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:28975123G>T	ENST00000320805.4	+	8	1274	c.1199G>T	c.(1198-1200)gGc>gTc	p.G400V	NFATC2IP_ENST00000568148.1_Missense_Mutation_p.G108V|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000564978.1_Missense_Mutation_p.G121V	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	400	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						AAGCTTTCAGGCAGGGAGCTG	0.587																																						ENST00000320805.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						c.(1198-1200)gGc>gTc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein							67.0	63.0	64.0					16																	28975123		2197	4300	6497	SO:0001583	missense	84901					cytoplasm|nucleus		g.chr16:28975123G>T	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.1199G>T	16.37:g.28975123G>T	ENSP00000324792:p.Gly400Val					RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.G108V|NFATC2IP_ENST00000564978.1_Missense_Mutation_p.G121V	p.G400V	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN			8	1274	+			400			Ubiquitin-like.		B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	c.1199G>T	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075423	0.76415	.	.	ENSG00000176953	ENST00000320805	T	0.23950	1.88	6.07	5.11	0.69529	Ubiquitin supergroup (1);Small ubiquitin-related modifier, SUMO (1);Ubiquitin (1);	0.272984	0.32459	N	0.006071	T	0.48466	0.1501	M	0.78049	2.395	0.53688	D	0.999978	D;D	0.76494	0.999;0.989	D;D	0.77557	0.99;0.92	T	0.39354	-0.9618	10	0.44086	T	0.13	-24.5084	10.2925	0.43605	0.0868:0.0:0.9132:0.0	.	400;119	Q8NCF5;Q8NCF5-2	NF2IP_HUMAN;.	V	400	ENSP00000324792:G400V	ENSP00000324792:G400V	G	+	2	0	NFATC2IP	28882624	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.947000	0.49058	2.884000	0.98904	0.655000	0.94253	GGC		0.587	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		9	29	1	0	0.000442599	0.006214	0.000463027	9	29				
INPP4A	3631	broad.mit.edu	37	2	99160454	99160454	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:99160454C>T	ENST00000523221.1	+	9	933	c.933C>T	c.(931-933)gaC>gaT	p.D311D	INPP4A_ENST00000409851.3_Silent_p.D311D|INPP4A_ENST00000409540.3_Silent_p.D311D|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Silent_p.D311D|INPP4A_ENST00000545415.1_Silent_p.D311D|INPP4A_ENST00000074304.5_Silent_p.D311D			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	311					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ACCTGACCGACCTCCATCAGT	0.587																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(931-933)gaC>gaT		inositol polyphosphate-4-phosphatase, type I, 107kDa							83.0	82.0	82.0					2																	99160454		2094	4213	6307	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99160454C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.933C>T	2.37:g.99160454C>T						INPP4A_ENST00000523221.1_Silent_p.D311D|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Silent_p.D311D|INPP4A_ENST00000409540.3_Silent_p.D311D|INPP4A_ENST00000545415.1_Silent_p.D311D|INPP4A_ENST00000409851.3_Silent_p.D311D	p.D311D	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			11	1326	+			311					O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.933C>T	CCDS46369.1																																																																																				0.587	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		3	5	0	0	0	0.004672	0	3	5				
FBXO24	26261	broad.mit.edu	37	7	100198322	100198322	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:100198322A>G	ENST00000241071.6	+	10	1865	c.1543A>G	c.(1543-1545)Atg>Gtg	p.M515V	PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.M503V|FBXO24_ENST00000427939.2_Missense_Mutation_p.M553V|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	515					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGGGGGGATGGCCCAGGC	0.662																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(1543-1545)Atg>Gtg		F-box protein 24							48.0	45.0	46.0					7																	100198322		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100198322A>G	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1543A>G	7.37:g.100198322A>G	ENSP00000241071:p.Met515Val					FBXO24_ENST00000468962.1_Missense_Mutation_p.M503V|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.M553V|FBXO24_ENST00000360609.2_3'UTR	p.M515V	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			10	1865	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		515					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.1543A>G	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	a	0.269	-0.993871	0.02145	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	T;T;T	0.12879	2.64;2.64;2.64	4.31	-2.6	0.06190	.	0.714629	0.12064	N	0.502842	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43750	-0.9372	10	0.11794	T	0.64	0.0993	5.8331	0.18590	0.6289:0.0:0.2231:0.148	.	503;553;515;515	B4DY42;B4DX91;A4D2D3;O75426	.;.;.;FBX24_HUMAN	V	515;503;553	ENSP00000241071:M515V;ENSP00000420239:M503V;ENSP00000416558:M553V	ENSP00000241071:M515V	M	+	1	0	FBXO24	100036258	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.624000	0.05540	-0.835000	0.04234	-0.476000	0.04901	ATG		0.662	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			3	50	0	0	0	0.004672	0	3	50				
KIAA0922	23240	broad.mit.edu	37	4	154525199	154525199	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:154525199G>A	ENST00000409663.3	+	25	3084	c.3032G>A	c.(3031-3033)aGc>aAc	p.S1011N	KIAA0922_ENST00000440693.1_Missense_Mutation_p.S928N|KIAA0922_ENST00000409959.3_Missense_Mutation_p.S1012N	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1011						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCCCTGGGCAGCTCACTGCCT	0.502																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3031-3033)aGc>aAc		KIAA0922							59.0	57.0	58.0					4																	154525199		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154525199G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3032G>A	4.37:g.154525199G>A	ENSP00000386574:p.Ser1011Asn					KIAA0922_ENST00000440693.1_Missense_Mutation_p.S928N|KIAA0922_ENST00000409959.3_Missense_Mutation_p.S1012N	p.S1011N	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			25	3084	+	all_hematologic(180;0.093)	Renal(120;0.118)	1011					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3032G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	1.815	-0.473751	0.04414	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.18810	2.47;2.19;2.47;2.19	5.44	2.48	0.30137	.	0.835749	0.11555	N	0.552323	T	0.15869	0.0382	L	0.40543	1.245	0.09310	N	1	B;B;B	0.25105	0.118;0.001;0.001	B;B;B	0.27715	0.082;0.004;0.003	T	0.28138	-1.0053	10	0.19147	T	0.46	-1.2325	6.8211	0.23857	0.145:0.301:0.554:0.0	.	928;1012;1011	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	N	1011;928;1012;789	ENSP00000386574:S1011N;ENSP00000409663:S928N;ENSP00000386787:S1012N;ENSP00000240487:S789N	ENSP00000240487:S789N	S	+	2	0	KIAA0922	154744649	0.066000	0.20996	0.004000	0.12327	0.099000	0.18886	1.240000	0.32731	1.258000	0.44101	0.655000	0.94253	AGC		0.502	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		13	67	0	0	0	0.016723	0	13	67				
DSEL	92126	broad.mit.edu	37	18	65180850	65180850	+	Silent	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr18:65180850G>T	ENST00000310045.7	-	2	2499	c.1026C>A	c.(1024-1026)tcC>tcA	p.S342S	RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	332					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AATTATAATTGGAATCTGCTA	0.363																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1024-1026)tcC>tcA		dermatan sulfate epimerase-like							72.0	76.0	75.0					18																	65180850		2202	4300	6502	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180850G>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1026C>A	18.37:g.65180850G>T						CTD-2541J13.2_ENST00000583493.1_RNA	p.S342S	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	2499	-		Esophageal squamous(42;0.129)	332					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.1026C>A	CCDS11995.1																																																																																				0.363	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		13	56	1	0	4.3838e-07	0.016723	4.88686e-07	13	56				
NEFH	4744	broad.mit.edu	37	22	29879403	29879403	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr22:29879403C>T	ENST00000310624.6	+	2	956	c.923C>T	c.(922-924)aCa>aTa	p.T308I		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	308	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGGTGAACACAGACGCTATG	0.597																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(922-924)aCa>aTa		neurofilament, heavy polypeptide							148.0	147.0	148.0					22																	29879403		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29879403C>T		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.923C>T	22.37:g.29879403C>T	ENSP00000311997:p.Thr308Ile						p.T308I	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			2	956	+			308			Coil 2B.|Rod.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.923C>T	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682607	0.47991	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.89196	-2.48	5.09	4.06	0.47325	Filament (1);	0.292675	0.24940	N	0.034390	D	0.89047	0.6604	M	0.69248	2.105	0.38016	D	0.934684	P	0.42161	0.772	P	0.46629	0.522	D	0.90164	0.4230	10	0.72032	D	0.01	.	9.3599	0.38190	0.1455:0.7798:0.0:0.0747	.	308	P12036	NFH_HUMAN	I	308	ENSP00000311997:T308I	ENSP00000311997:T308I	T	+	2	0	NEFH	28209403	0.939000	0.31865	0.995000	0.50966	0.725000	0.41563	1.389000	0.34453	1.335000	0.45486	0.650000	0.86243	ACA		0.597	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		56	271	0	0	0	0.014410	0	56	271				
PTPN6	5777	broad.mit.edu	37	12	7065324	7065324	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr12:7065324C>T	ENST00000318974.9	+	8	1108	c.864C>T	c.(862-864)atC>atT	p.I288I	PTPN6_ENST00000447931.2_Silent_p.I249I|PTPN6_ENST00000456013.1_Silent_p.I288I|PTPN6_ENST00000399448.1_Silent_p.I290I	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	288	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GCCGAGTGATCCTGCAGGGAC	0.612																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(862-864)atC>atT		protein tyrosine phosphatase, non-receptor type 6							85.0	90.0	88.0					12																	7065324		2135	4247	6382	SO:0001819	synonymous_variant	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7065324C>T		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.864C>T	12.37:g.7065324C>T						PTPN6_ENST00000399448.1_Silent_p.I290I|PTPN6_ENST00000318974.9_Silent_p.I288I|PTPN6_ENST00000447931.2_Silent_p.I249I	p.I288I	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			8	1106	+			288			Tyrosine-protein phosphatase.		A8K306|G3V0F8|Q969V8|Q9UK67	Silent	SNP	ENST00000318974.9	37	c.864C>T	CCDS44820.1																																																																																				0.612	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		14	34	0	0	0	0.020292	0	14	34				
OR2M2	391194	broad.mit.edu	37	1	248344299	248344299	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:248344299A>G	ENST00000359682.2	+	1	1012	c.1012A>G	c.(1012-1014)Aaa>Gaa	p.K338E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	338						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K338E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTATGATGTCAAAATACTAGC	0.289																																						ENST00000359682.2																			1	Substitution - Missense(1)	p.K338E(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(1012-1014)Aaa>Gaa		olfactory receptor, family 2, subfamily M, member 2							140.0	151.0	147.0					1																	248344299		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344299A>G	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.1012A>G	1.37:g.248344299A>G	ENSP00000352710:p.Lys338Glu						p.K338E	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	1012	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		338					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.1012A>G	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	a	6.636	0.485809	0.12641	.	.	ENSG00000198601	ENST00000359682	T	0.19532	2.14	2.63	-0.151	0.13411	.	.	.	.	.	T	0.11623	0.0283	L	0.27053	0.805	0.09310	N	1	B	0.27286	0.174	B	0.16722	0.016	T	0.27020	-1.0086	9	0.87932	D	0	.	2.8444	0.05539	0.5732:0.2648:0.1619:0.0	.	338	Q96R28	OR2M2_HUMAN	E	338	ENSP00000352710:K338E	ENSP00000352710:K338E	K	+	1	0	OR2M2	246410922	0.000000	0.05858	0.011000	0.14972	0.041000	0.13682	-0.576000	0.05854	-0.142000	0.11354	0.433000	0.28618	AAA		0.289	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		23	114	0	0	0	0.012319	0	23	114				
FAM71B	153745	broad.mit.edu	37	5	156590665	156590665	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:156590665G>A	ENST00000302938.4	-	2	706	c.611C>T	c.(610-612)gCa>gTa	p.A204V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	204						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGAGCTCTGCAGCCTATAC	0.493																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(610-612)gCa>gTa		family with sequence similarity 71, member B							77.0	81.0	80.0					5																	156590665		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590665G>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.611C>T	5.37:g.156590665G>A	ENSP00000305596:p.Ala204Val						p.A204V	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	706	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	204					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.611C>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	3.940	-0.014339	0.07681	.	.	ENSG00000170613	ENST00000302938	T	0.03831	3.79	3.9	3.01	0.34805	.	1.308410	0.05345	N	0.530776	T	0.04724	0.0128	L	0.29908	0.895	0.09310	N	0.999999	B	0.19706	0.038	B	0.14023	0.01	T	0.43605	-0.9381	10	0.11485	T	0.65	0.0542	9.5703	0.39425	0.0:0.2142:0.7858:0.0	.	204	Q8TC56	FA71B_HUMAN	V	204	ENSP00000305596:A204V	ENSP00000305596:A204V	A	-	2	0	FAM71B	156523243	0.975000	0.34042	0.277000	0.24703	0.020000	0.10135	3.616000	0.54174	1.202000	0.43218	-0.175000	0.13238	GCA		0.493	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		18	53	0	0	0	0.007413	0	18	53				
ECI2	10455	broad.mit.edu	37	6	4135788	4135788	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:4135788T>C	ENST00000380118.3	-	1	43	c.7A>G	c.(7-9)Atg>Gtg	p.M3V	RP3-400B16.4_ENST00000527831.1_RNA|RP3-400B16.1_ENST00000427049.2_lincRNA|ECI2_ENST00000361538.2_5'UTR|ECI2_ENST00000465828.1_5'UTR|ECI2_ENST00000380125.2_5'Flank|ECI2_ENST00000413766.2_5'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	3					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AAGTACGCCATCGCCATCCCT	0.731																																						ENST00000380118.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						c.(7-9)Atg>Gtg		enoyl-CoA delta isomerase 2							38.0	41.0	40.0					6																	4135788		1564	3577	5141	SO:0001583	missense	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4135788T>C	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.7A>G	6.37:g.4135788T>C	ENSP00000369461:p.Met3Val					RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000465828.1_5'UTR|ECI2_ENST00000361538.2_5'UTR	p.M3V			O75521	ECI2_HUMAN			1	43	-			3					Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	c.7A>G	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	T	12.48	1.950537	0.34377	.	.	ENSG00000198721	ENST00000380118	T	0.12774	2.65	2.19	2.19	0.27852	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.26818	N	0.968867	B	0.02656	0.0	B	0.01281	0.0	T	0.43972	-0.9358	9	0.54805	T	0.06	.	6.3259	0.21242	0.0:0.0:0.0:1.0	.	3	O75521	ECI2_HUMAN	V	3	ENSP00000369461:M3V	ENSP00000369461:M3V	M	-	1	0	ECI2	4080787	0.004000	0.15560	0.019000	0.16419	0.011000	0.07611	0.029000	0.13666	1.263000	0.44181	0.352000	0.21897	ATG		0.731	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		19	59	0	0	0	0.010504	0	19	59				
CDH11	1009	broad.mit.edu	37	16	64984856	64984856	+	Silent	SNP	G	G	A	rs142957030	byFrequency	TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:64984856G>A	ENST00000268603.4	-	12	2323	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L	CDH11_ENST00000566827.1_Silent_p.L444L|CDH11_ENST00000394156.3_Silent_p.L570L	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	570	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACTATGGGCAGAAGGTACAAG	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1708-1710)Ctg>Ttg		cadherin 11, type 2, OB-cadherin (osteoblast)							86.0	77.0	80.0					16																	64984856		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984856G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1708C>T	16.37:g.64984856G>A		TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Silent_p.L570L|CDH11_ENST00000566827.1_Silent_p.L444L	p.L570L			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2161	-		Ovarian(137;0.0973)	570			Cadherin 5.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1708C>T	CCDS10803.1																																																																																				0.612	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		15	33	0	0	0	0.024245	0	15	33				
RPS6KC1	26750	broad.mit.edu	37	1	213436154	213436154	+	Nonsense_Mutation	SNP	C	C	T	rs367780807		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:213436154C>T	ENST00000366960.3	+	14	3235	c.3085C>T	c.(3085-3087)Caa>Taa	p.Q1029*	RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.Q817*|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.Q1017*|RPS6KC1_ENST00000543354.1_3'UTR|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1029	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTCACTCATTCAACAGGTAAT	0.418																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(3085-3087)Caa>Taa		ribosomal protein S6 kinase, 52kDa, polypeptide 1							106.0	105.0	105.0					1																	213436154		2203	4300	6503	SO:0001587	stop_gained	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213436154C>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.3085C>T	1.37:g.213436154C>T	ENSP00000355927:p.Gln1029*					RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_3'UTR|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.Q1017*|RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.Q817*	p.Q1029*	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	14	3235	+			1029			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Nonsense_Mutation	SNP	ENST00000366960.3	37	c.3085C>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	39	7.733542	0.98459	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959	.	.	.	5.37	5.37	0.77165	.	0.201164	0.44097	D	0.000497	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-31.9709	19.469	0.94954	0.0:1.0:0.0:0.0	.	.	.	.	X	817;1029;1017	.	ENSP00000355926:Q1017X	Q	+	1	0	RPS6KC1	211502777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.819000	0.55686	2.649000	0.89929	0.655000	0.94253	CAA		0.418	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		9	48	0	0	0	0.008291	0	9	48				
SLC8A2	6543	broad.mit.edu	37	19	47941206	47941206	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:47941206G>A	ENST00000236877.6	-	7	2305	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	SLC8A2_ENST00000539381.1_Missense_Mutation_p.A100V|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Missense_Mutation_p.A393V	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	637					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTCCTCCTCGGCTGTTAGCTT	0.567																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(1909-1911)gCc>gTc		solute carrier family 8 (sodium/calcium exchanger), member 2							103.0	102.0	103.0					19																	47941206		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47941206G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1910C>T	19.37:g.47941206G>A	ENSP00000236877:p.Ala637Val					SLC8A2_ENST00000542837.1_Missense_Mutation_p.A393V|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_Missense_Mutation_p.A100V	p.A637V	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	7	2305	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	637					B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.1910C>T	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723977	0.30593	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.25250	1.81;1.81;1.81	2.54	2.54	0.30619	.	0.087475	0.42420	U	0.000708	T	0.13713	0.0332	N	0.22421	0.69	0.49798	D	0.99982	P;P	0.43750	0.816;0.483	B;B	0.34590	0.186;0.084	T	0.11470	-1.0586	10	0.21014	T	0.42	.	12.953	0.58411	0.0:0.0:1.0:0.0	.	465;637	E9PGS7;Q9UPR5	.;NAC2_HUMAN	V	465;637;100;393	ENSP00000236877:A637V;ENSP00000440588:A100V;ENSP00000437536:A393V	ENSP00000236877:A637V	A	-	2	0	SLC8A2	52633018	0.007000	0.16637	0.878000	0.34440	0.662000	0.39071	1.654000	0.37334	1.751000	0.51876	0.456000	0.33151	GCC		0.567	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			27	101	0	0	0	0.027356	0	27	101				
MOG	4340	broad.mit.edu	37	6	29641487	29641487	+	IGR	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:29641487T>C	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.E134G|ZFP57_ENST00000376881.3_Missense_Mutation_p.E114G|ZFP57_ENST00000376883.1_Missense_Mutation_p.E114G	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						ACTAGTCCCCTCATCTCTCAG	0.512																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(340-342)gAg>gGg		ZFP57 zinc finger protein							149.0	161.0	157.0					6																	29641487		1225	2518	3743	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641487T>C		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641487T>C						ZFP57_ENST00000376881.3_Missense_Mutation_p.E114G|ZFP57_ENST00000488757.1_Missense_Mutation_p.E134G	p.E114G			Q9NU63	ZFP57_HUMAN			6	752	-			78		N -> S (in dbSNP:rs9461544).			A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.341A>G	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.955340	0.34471	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.06687	3.27;3.52;3.52	3.83	3.83	0.44106	.	1.069410	0.07326	N	0.878478	T	0.01800	0.0057	N	0.19112	0.55	0.09310	N	1	B;B	0.28713	0.22;0.22	B;B	0.25614	0.062;0.062	T	0.41592	-0.9500	10	0.28530	T	0.3	-8.5429	5.9714	0.19355	0.0:0.1143:0.0:0.8857	.	134;114	Q9NU63-3;Q9NU63-2	.;.	G	134;114;114	ENSP00000418259:E134G;ENSP00000366078:E114G;ENSP00000366080:E114G	ENSP00000366078:E114G	E	-	2	0	ZFP57	29749466	0.000000	0.05858	0.011000	0.14972	0.434000	0.31775	-0.749000	0.04813	1.977000	0.57605	0.533000	0.62120	GAG		0.512	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		3	142	0	0	0	0.004672	0	3	142				
PEX6	5190	broad.mit.edu	37	6	42934376	42934376	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:42934376C>T	ENST00000304611.8	-	10	2050	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	PEX6_ENST00000244546.4_Missense_Mutation_p.E661K	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	661					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCATCCTCCTCAGTCAAGCCA	0.597																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(1981-1983)Gag>Aag		peroxisomal biogenesis factor 6							131.0	142.0	138.0					6																	42934376		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42934376C>T	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1981G>A	6.37:g.42934376C>T	ENSP00000303511:p.Glu661Lys					PEX6_ENST00000244546.4_Missense_Mutation_p.E661K	p.E661K	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		10	2050	-			661					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.1981G>A	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685730	0.47991	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	D;D	0.95307	-3.38;-3.67	5.11	5.11	0.69529	.	0.225800	0.43919	D	0.000512	D	0.90669	0.7073	L	0.39245	1.2	0.58432	D	0.999998	P	0.42735	0.788	B	0.42851	0.4	D	0.91648	0.5332	10	0.51188	T	0.08	-17.05	18.1615	0.89709	0.0:1.0:0.0:0.0	.	661	Q13608	PEX6_HUMAN	K	661	ENSP00000303511:E661K;ENSP00000244546:E661K	ENSP00000244546:E661K	E	-	1	0	PEX6	43042354	0.996000	0.38824	0.994000	0.49952	0.930000	0.56654	3.791000	0.55469	2.379000	0.81126	0.462000	0.41574	GAG		0.597	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		32	128	0	0	0	0.012213	0	32	128				
FBXL4	26235	broad.mit.edu	37	6	99374830	99374830	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:99374830G>C	ENST00000369244.2	-	4	463	c.35C>G	c.(34-36)aCc>aGc	p.T12S	FBXL4_ENST00000229971.1_Missense_Mutation_p.T12S	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	12					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATAAAACATGGTCAGAACTGT	0.433																																						ENST00000369244.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(34-36)aCc>aGc		F-box and leucine-rich repeat protein 4							123.0	118.0	119.0					6																	99374830		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99374830G>C	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.35C>G	6.37:g.99374830G>C	ENSP00000358247:p.Thr12Ser					FBXL4_ENST00000229971.1_Missense_Mutation_p.T12S	p.T12S			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	4	463	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	12					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.35C>G	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410621	0.25465	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.12465	2.68;2.68	5.52	5.52	0.82312	.	0.040721	0.85682	D	0.000000	T	0.02267	0.0070	N	0.02736	-0.51	0.41855	D	0.990199	B	0.06786	0.001	B	0.04013	0.001	T	0.46638	-0.9177	10	0.15499	T	0.54	.	14.3312	0.66559	0.0:0.2622:0.7378:0.0	.	12	Q9UKA2	FBXL4_HUMAN	S	12	ENSP00000358247:T12S;ENSP00000229971:T12S	ENSP00000229971:T12S	T	-	2	0	FBXL4	99481551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.517000	0.73759	2.765000	0.95021	0.650000	0.86243	ACC		0.433	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			15	75	0	0	0	0.024245	0	15	75				
TTN	7273	broad.mit.edu	37	2	179471858	179471858	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:179471858A>G	ENST00000591111.1	-	228	48772	c.48548T>C	c.(48547-48549)aTc>aCc	p.I16183T	TTN_ENST00000359218.5_Missense_Mutation_p.I8884T|TTN_ENST00000460472.2_Missense_Mutation_p.I8759T|TTN_ENST00000342992.6_Missense_Mutation_p.I15256T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I8951T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I17824T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16183	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CAGACCTGTGATGTCACATTT	0.413																																						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.(53470-53472)aTc>aCc		titin							244.0	234.0	237.0					2																	179471858		1898	4136	6034	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179471858A>G	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.48548T>C	2.37:g.179471858A>G	ENSP00000465570:p.Ile16183Thr					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I8884T|TTN_ENST00000460472.2_Missense_Mutation_p.I8759T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I8951T|TTN_ENST00000342992.6_Missense_Mutation_p.I15256T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I16183T|TTN-AS1_ENST00000590807.1_RNA	p.I17824T	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)		278	53695	-			16183			Ig-like 104.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.53471T>C		.	.	.	.	.	.	.	.	.	.	A	9.489	1.100278	0.20552	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.84	5.84	0.93424	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74291	0.3697	M	0.74389	2.26	0.47009	D	0.999284	D;D;D;D	0.61697	0.989;0.989;0.989;0.99	P;P;P;P	0.62491	0.862;0.862;0.862;0.903	T	0.77778	-0.2460	9	0.87932	D	0	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	8759;8884;8951;16183	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15256;8759;8951;8884;8759	ENSP00000343764:I15256T;ENSP00000434586:I8759T;ENSP00000340554:I8951T;ENSP00000352154:I8884T	ENSP00000340554:I8951T	I	-	2	0	TTN	179180103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.811000	0.62606	2.228000	0.72767	0.533000	0.62120	ATC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	130	0	0	0	0.021523	0	24	130				
SIM1	6492	broad.mit.edu	37	6	100898154	100898154	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:100898154C>T	ENST00000369208.3	-	4	1119	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	SIM1_ENST00000262901.4_Missense_Mutation_p.G113S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	113	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGAGAAAGACCCAAGTGGACT	0.562																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(337-339)Ggt>Agt		single-minded family bHLH transcription factor 1							185.0	168.0	173.0					6																	100898154		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100898154C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.337G>A	6.37:g.100898154C>T	ENSP00000358210:p.Gly113Ser					SIM1_ENST00000262901.4_Missense_Mutation_p.G113S	p.G113S			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	4	1119	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	113			PAS 1.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.337G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326764	0.95708	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.38401	1.14;1.14	4.99	4.99	0.66335	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81978	-0.0685	10	0.87932	D	0	.	17.8688	0.88804	0.0:1.0:0.0:0.0	.	113	P81133	SIM1_HUMAN	S	113	ENSP00000358210:G113S;ENSP00000262901:G113S	ENSP00000262901:G113S	G	-	1	0	SIM1	101004875	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.461000	0.80834	2.326000	0.78906	0.561000	0.74099	GGT		0.562	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		32	107	0	0	0	0.015359	0	32	107				
PCDHA12	56137	broad.mit.edu	37	5	140256690	140256690	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:140256690C>G	ENST00000398631.2	+	1	1633	c.1633C>G	c.(1633-1635)Ctg>Gtg	p.L545V	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	545	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCCGCCTCTGGGCAGCAA	0.697																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1633-1635)Ctg>Gtg									93.0	101.0	99.0					5																	140256690		2203	4296	6499	SO:0001583	missense	56137							g.chr5:140256690C>G	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1633C>G	5.37:g.140256690C>G	ENSP00000381628:p.Leu545Val					PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.L545V	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1633	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1633C>G	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327507	0.60743	.	.	ENSG00000251664	ENST00000398631	T	0.55234	0.53	4.92	4.04	0.47022	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78181	0.4243	H	0.95745	3.715	0.26364	N	0.977005	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.69734	-0.5065	9	0.87932	D	0	.	8.556	0.33480	0.0:0.7615:0.0:0.2385	.	545;545	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	545	ENSP00000381628:L545V	ENSP00000381628:L545V	L	+	1	2	PCDHA12	140236874	0.727000	0.28069	0.905000	0.35620	0.942000	0.58702	1.539000	0.36104	2.271000	0.75665	0.561000	0.74099	CTG		0.697	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		36	79	0	0	0	0.015359	0	36	79				
ZNF302	55900	broad.mit.edu	37	19	35175566	35175566	+	Silent	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:35175566A>G	ENST00000446502.2	+	6	964	c.756A>G	c.(754-756)aaA>aaG	p.K252K	ZNF302_ENST00000505242.1_Silent_p.K208K|ZNF302_ENST00000457781.2_Silent_p.K208K|ZNF302_ENST00000423823.2_Silent_p.K208K|ZNF302_ENST00000505365.2_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	287					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AATGTGGGAAAGCCTTTGGCA	0.438																																						ENST00000505242.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(622-624)aaA>aaG		zinc finger protein 302							95.0	103.0	100.0					19																	35175566		2180	4290	6470	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175566A>G	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.756A>G	19.37:g.35175566A>G						ZNF302_ENST00000457781.2_Silent_p.K208K|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Silent_p.K208K|ZNF302_ENST00000446502.2_Silent_p.K252K	p.K208K			Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	1118	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		287					Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.624A>G																																																																																					0.438	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			54	60	0	0	0	0.014410	0	54	60				
SLC27A3	11000	broad.mit.edu	37	1	153749041	153749041	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:153749041G>T	ENST00000368661.3	+	2	921	c.856G>T	c.(856-858)Ggg>Tgg	p.G286W	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Missense_Mutation_p.G367W	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	286					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGAGCCATGGGGCTCCACCT	0.627																																						ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(1099-1101)Ggg>Tgg		solute carrier family 27 (fatty acid transporter), member 3							77.0	87.0	84.0					1																	153749041		2203	4300	6503	SO:0001583	missense	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153749041G>T	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.856G>T	1.37:g.153749041G>T	ENSP00000357650:p.Gly286Trp					SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.G286W	p.G367W			Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	1859	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		286					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.1099G>T	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.275136	0.40194	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.10668	2.85;2.85	4.68	2.71	0.32032	AMP-dependent synthetase/ligase (1);	0.343534	0.27464	N	0.019260	T	0.18800	0.0451	M	0.80183	2.485	0.33654	D	0.608812	D	0.89917	1.0	D	0.79108	0.992	T	0.00773	-1.1572	10	0.72032	D	0.01	-24.2099	5.6379	0.17546	0.1073:0.2019:0.6908:0.0	.	286	Q5K4L6	S27A3_HUMAN	W	367;286	ENSP00000271857:G367W;ENSP00000357650:G286W	ENSP00000271857:G367W	G	+	1	0	SLC27A3	152015665	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	2.054000	0.41335	2.440000	0.82611	0.491000	0.48974	GGG		0.627	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		4	152	1	0	1.23904e-05	0.014758	1.32685e-05	4	152				
CAND2	23066	broad.mit.edu	37	3	12858258	12858258	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:12858258C>G	ENST00000456430.2	+	10	1868	c.1827C>G	c.(1825-1827)gaC>gaG	p.D609E	CAND2_ENST00000295989.5_Missense_Mutation_p.D516E	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	609					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTGGGGATGACCTGGAGCCCA	0.647																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1825-1827)gaC>gaG		cullin-associated and neddylation-dissociated 2 (putative)							70.0	81.0	77.0					3																	12858258		2111	4225	6336	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858258C>G		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1827C>G	3.37:g.12858258C>G	ENSP00000387641:p.Asp609Glu					CAND2_ENST00000295989.5_Missense_Mutation_p.D516E	p.D609E	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	1868	+			609					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1827C>G	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	c	0.017	-1.495956	0.01009	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.64991	-0.13;-0.13	5.12	-0.213	0.13165	Armadillo-like helical (1);Armadillo-type fold (1);	0.278612	0.33290	N	0.005061	T	0.21186	0.0510	N	0.01761	-0.735	0.09310	N	0.999999	B;B	0.30605	0.0;0.287	B;B	0.29942	0.001;0.109	T	0.32903	-0.9889	10	0.02654	T	1	-6.7941	1.1848	0.01853	0.1336:0.3036:0.1847:0.3781	.	609;516	O75155;O75155-2	CAND2_HUMAN;.	E	516;609	ENSP00000295989:D516E;ENSP00000387641:D609E	ENSP00000295989:D516E	D	+	3	2	CAND2	12833258	0.067000	0.21026	0.024000	0.17045	0.818000	0.46254	-1.169000	0.03120	-0.041000	0.13558	-0.215000	0.12644	GAC		0.647	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		23	149	0	0	0	0.016522	0	23	149				
AHNAK	79026	broad.mit.edu	37	11	62296954	62296954	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr11:62296954C>A	ENST00000378024.4	-	5	5209	c.4935G>T	c.(4933-4935)gaG>gaT	p.E1645D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1645					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGAAATGCATCTCAGGCATCT	0.468																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4933-4935)gaG>gaT		AHNAK nucleoprotein							178.0	189.0	185.0					11																	62296954		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296954C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4935G>T	11.37:g.62296954C>A	ENSP00000367263:p.Glu1645Asp					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.E1645D	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	5209	-		Melanoma(852;0.155)	1645					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4935G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	0.017	-1.494009	0.01009	.	.	ENSG00000124942	ENST00000378024	T	0.03004	4.08	3.97	-7.93	0.01156	.	0.413275	0.17352	U	0.177367	T	0.02083	0.0065	N	0.12527	0.23	0.09310	N	0.999997	B	0.10296	0.003	B	0.19666	0.026	T	0.41466	-0.9507	10	0.11182	T	0.66	.	18.6091	0.91277	0.0868:0.1475:0.7657:0.0	.	1645	Q09666	AHNK_HUMAN	D	1645	ENSP00000367263:E1645D	ENSP00000367263:E1645D	E	-	3	2	AHNAK	62053530	0.000000	0.05858	0.343000	0.25615	0.025000	0.11179	-3.206000	0.00558	-1.181000	0.02730	0.195000	0.17529	GAG		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		71	224	1	0	8.73484e-25	0.014410	1.09994e-24	71	224				
RTN3	10313	broad.mit.edu	37	11	63488185	63488185	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr11:63488185C>A	ENST00000377819.5	+	3	2365	c.2211C>A	c.(2209-2211)gaC>gaA	p.D737E	RTN3_ENST00000540798.1_Missense_Mutation_p.D625E|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D718E	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	737					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATCTCTTGACTTAGAACAAG	0.423																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(2209-2211)gaC>gaA		reticulon 3							64.0	58.0	60.0					11																	63488185		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63488185C>A	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2211C>A	11.37:g.63488185C>A	ENSP00000367050:p.Asp737Glu					RTN3_ENST00000540798.1_Missense_Mutation_p.D625E|RTN3_ENST00000339997.4_Missense_Mutation_p.D718E|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron	p.D737E	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	2365	+			737					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.2211C>A	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622271	0.66787	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.48836	0.8;0.82;0.86	5.66	-1.22	0.09494	.	0.113232	0.39083	N	0.001471	T	0.48750	0.1517	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.991;0.996	T	0.36768	-0.9734	10	0.27785	T	0.31	-18.5321	8.6539	0.34051	0.0:0.4012:0.0:0.5988	.	625;737;718	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	E	737;718;625	ENSP00000367050:D737E;ENSP00000344106:D718E;ENSP00000442733:D625E	ENSP00000344106:D718E	D	+	3	2	RTN3	63244761	0.970000	0.33590	0.969000	0.41365	0.908000	0.53690	-0.190000	0.09615	-0.053000	0.13289	-0.140000	0.14226	GAC		0.423	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		17	26	1	0	5.3912e-06	0.006122	5.86563e-06	17	26				
APP	351	broad.mit.edu	37	21	27394285	27394285	+	Missense_Mutation	SNP	C	C	T	rs147485129		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr21:27394285C>T	ENST00000346798.3	-	6	769	c.736G>A	c.(736-738)Gag>Aag	p.E246K	APP_ENST00000448388.2_Missense_Mutation_p.E211K|APP_ENST00000354192.3_Missense_Mutation_p.E190K|APP_ENST00000359726.3_Missense_Mutation_p.E246K|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_Missense_Mutation_p.E246K|APP_ENST00000440126.3_Missense_Mutation_p.E241K|APP_ENST00000439274.2_Missense_Mutation_p.E190K|APP_ENST00000348990.5_Missense_Mutation_p.E246K|APP_ENST00000358918.3_Missense_Mutation_p.E246K	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	246	Asp/Glu-rich (acidic).				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				tcatcgtcctcgtcatcatcg	0.502																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(736-738)Gag>Aag		amyloid beta (A4) precursor protein		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	382.0	266.0	305.0		736,721,568,568,631,736,736,736,736,736	3.5	1.0	21	dbSNP_134	305	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	APP	NM_000484.3,NM_001136016.3,NM_001136129.2,NM_001136130.2,NM_001136131.2,NM_001204301.1,NM_001204302.1,NM_001204303.1,NM_201413.2,NM_201414.2	56,56,56,56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	246/771,241/747,190/640,190/715,211/661,246/753,246/734,246/678,246/752,246/696	27394285	1,13005	2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394285C>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.736G>A	21.37:g.27394285C>T	ENSP00000284981:p.Glu246Lys					APP_ENST00000440126.3_Missense_Mutation_p.E241K|APP_ENST00000359726.3_Missense_Mutation_p.E246K|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_Missense_Mutation_p.E246K|APP_ENST00000346798.3_Missense_Mutation_p.E246K|APP_ENST00000354192.3_Missense_Mutation_p.E190K|APP_ENST00000348990.5_Missense_Mutation_p.E246K|APP_ENST00000439274.2_Missense_Mutation_p.E190K|APP_ENST00000448388.2_Missense_Mutation_p.E211K	p.E246K	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	935	-		Breast(209;0.00295)	246			Asp/Glu-rich (acidic).		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.736G>A	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.733|9.733	1.162805|1.162805	0.21538|0.21538	0.0|0.0	1.16E-4|1.16E-4	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274|ENST00000448850;ENST00000415997	T;D;D;T;T;D;D;T;T|.	0.96830|.	1.65;-4.01;-4.02;1.65;1.65;-4.14;-4.01;1.65;1.65|.	3.55|3.55	3.55|3.55	0.40652|0.40652	.|.	0.178416|.	0.47852|.	D|.	0.000210|.	T|T	0.34629|0.34629	0.0904|0.0904	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999997|0.999997	D;P;P;P;P;P;P;P|.	0.65815|.	0.995;0.826;0.826;0.826;0.891;0.891;0.891;0.826|.	D;B;B;B;P;P;P;B|.	0.68192|.	0.956;0.305;0.305;0.305;0.502;0.502;0.502;0.305|.	T|T	0.11817|0.11817	-1.0572|-1.0572	10|5	0.33940|.	T|.	0.23|.	-26.7203|-26.7203	10.9469|10.9469	0.47306|0.47306	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	246;211;190;241;190;246;246;246|.	P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;.;A4_HUMAN|.	K|Q	246;190;246;246;246;246;211;241;190|167;36	ENSP00000284981:E246K;ENSP00000346129:E190K;ENSP00000345463:E246K;ENSP00000350578:E246K;ENSP00000351796:E246K;ENSP00000352760:E246K;ENSP00000388538:E211K;ENSP00000387483:E241K;ENSP00000398879:E190K|.	ENSP00000284981:E246K|.	E|R	-|-	1|2	0|0	APP|APP	26316156|26316156	0.977000|0.977000	0.34250|0.34250	0.974000|0.974000	0.42286|0.42286	0.891000|0.891000	0.51852|0.51852	3.198000|3.198000	0.51035|0.51035	2.283000|2.283000	0.76528|0.76528	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.502	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		9	35	0	0	0	0.004482	0	9	35				
CAMTA1	23261	broad.mit.edu	37	1	7798137	7798137	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:7798137G>A	ENST00000303635.7	+	16	3984	c.3777G>A	c.(3775-3777)aaG>aaA	p.K1259K	CAMTA1_ENST00000439411.2_Silent_p.K1259K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGCAGGAGAAGCTGCTTCCCA	0.498			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(3775-3777)aaG>aaA		calmodulin binding transcription activator 1							73.0	70.0	71.0					1																	7798137		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7798137G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3777G>A	1.37:g.7798137G>A						CAMTA1_ENST00000439411.2_Silent_p.K1259K	p.K1259K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	16	3984	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1259					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.3777G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	7.280	0.608847	0.14066	.	.	ENSG00000171735	ENST00000495233	.	.	.	5.17	2.92	0.33932	.	.	.	.	.	T	0.62804	0.2458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61850	-0.6978	4	.	.	.	-13.556	12.6642	0.56833	0.1589:0.0:0.8411:0.0	.	.	.	.	N	216	.	.	S	+	2	0	CAMTA1	7720724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.976000	0.56867	1.166000	0.42689	0.655000	0.94253	AGC		0.498	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		9	41	0	0	0	0.004482	0	9	41				
OLFM3	118427	broad.mit.edu	37	1	102271700	102271700	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:102271700C>A	ENST00000338858.5	-	5	690	c.691G>T	c.(691-693)Gtc>Ttc	p.V231F	OLFM3_ENST00000370103.4_Missense_Mutation_p.V211F|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	231	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATGTCTTGACTGTAACTGGG	0.428																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(631-633)Gtc>Ttc		olfactomedin 3							164.0	148.0	153.0					1																	102271700		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102271700C>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.691G>T	1.37:g.102271700C>A	ENSP00000345192:p.Val231Phe					OLFM3_ENST00000338858.5_Missense_Mutation_p.V231F|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	p.V211F	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	5	844	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	231					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.631G>T		.	.	.	.	.	.	.	.	.	.	C	20.1	3.937927	0.73557	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	D;D	0.90069	-2.61;-2.61	5.17	3.27	0.37495	Olfactomedin-like (3);	0.264183	0.37483	N	0.002072	D	0.85762	0.5772	M	0.69358	2.11	0.80722	D	1	B;P	0.45634	0.238;0.863	B;P	0.45610	0.219;0.487	D	0.87902	0.2691	10	0.87932	D	0	.	11.7772	0.51993	0.0:0.8686:0.0:0.1314	.	211;231	Q5T3V6;Q96PB7	.;NOE3_HUMAN	F	82;211;231	ENSP00000359121:V211F;ENSP00000345192:V231F	ENSP00000345192:V231F	V	-	1	0	OLFM3	102044288	0.960000	0.32886	1.000000	0.80357	0.965000	0.64279	1.293000	0.33353	2.423000	0.82170	0.591000	0.81541	GTC		0.428	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			10	31	1	0	2.68362e-12	0.013537	3.14631e-12	10	31				
ASPM	259266	broad.mit.edu	37	1	197072273	197072273	+	Silent	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:197072273C>A	ENST00000367409.4	-	18	6364	c.6108G>T	c.(6106-6108)gtG>gtT	p.V2036V	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2036	IQ 14. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTTTTTCTCACTTTCATAC	0.338																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6106-6108)gtG>gtT		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							99.0	104.0	102.0					1																	197072273		2203	4298	6501	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072273C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6108G>T	1.37:g.197072273C>A						ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.V2036V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6364	-			2036			IQ 14.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.6108G>T	CCDS1389.1																																																																																				0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		54	59	1	0	6.14515e-18	0.014410	7.46197e-18	54	59				
SDK1	221935	broad.mit.edu	37	7	4249658	4249658	+	Splice_Site	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:4249658C>T	ENST00000404826.2	+	38	5542	c.5403C>T	c.(5401-5403)gcC>gcT	p.A1801A	SDK1_ENST00000389531.3_Splice_Site_p.A1781A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1801					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTCTCCCAGCCCCTGGGGCCC	0.522																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.e38-1		sidekick cell adhesion molecule 1							66.0	74.0	71.0					7																	4249658		2203	4300	6503	SO:0001630	splice_region_variant	221935				cell adhesion	integral to membrane		g.chr7:4249658C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5402-1C>T	7.37:g.4249658C>T						SDK1_ENST00000389531.3_Splice_Site_p.A1781_splice	p.A1801_splice	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	38	5542	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1801					Q8TEN9|Q8TEP5|Q96N44	Splice_Site	SNP	ENST00000404826.2	37	c.5401_splice	CCDS34590.1																																																																																				0.522	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	Silent	4	118	0	0	0	0.021553	0	4	118				
DMD	1756	broad.mit.edu	37	X	31854842	31854842	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:31854842G>T	ENST00000357033.4	-	49	7399	c.7193C>A	c.(7192-7194)cCa>cAa	p.P2398Q	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.P2394Q|DMD_ENST00000541735.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2398					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACCTTCACTGGCTGAGTGGC	0.423																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7192-7194)cCa>cAa		dystrophin							209.0	172.0	184.0					X																	31854842		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31854842G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7193C>A	X.37:g.31854842G>T	ENSP00000354923:p.Pro2398Gln					DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.P2394Q|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR	p.P2398Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			49	7399	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2398					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7193C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599981	0.28534	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T;T	0.33654	1.4;1.4;1.4	5.64	5.64	0.86602	.	0.000000	0.34777	U	0.003694	T	0.48003	0.1476	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.996;0.994;0.994	T	0.26467	-1.0102	10	0.15952	T	0.53	.	16.8651	0.86027	0.0:0.0:1.0:0.0	.	2390;2398;2394;1057;1054	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	Q	2390;1057;1054;94;2394;2398;2398;2275	ENSP00000350765:P94Q;ENSP00000367948:P2394Q;ENSP00000354923:P2398Q	ENSP00000354923:P2398Q	P	-	2	0	DMD	31764763	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.780000	0.75063	2.360000	0.80028	0.422000	0.28245	CCA		0.423	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		23	16	1	0	1.36565e-18	0.016522	1.67322e-18	23	16				
ZBED9	114821	broad.mit.edu	37	6	28540656	28540656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:28540656C>A	ENST00000452236.2	-	4	3627	c.3010G>T	c.(3010-3012)Gaa>Taa	p.E1004*		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gcaagactttctcgatgaatg	0.323																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(3010-3012)Gaa>Taa		SCAN domain containing 3							79.0	80.0	79.0					6																	28540656		2203	4299	6502	SO:0001587	stop_gained	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540656C>A																												ENST00000452236.2:c.3010G>T	6.37:g.28540656C>A	ENSP00000395259:p.Glu1004*						p.E1004*	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	3627	-			1004						Nonsense_Mutation	SNP	ENST00000452236.2	37	c.3010G>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	44	10.547133	0.99425	.	.	ENSG00000232040	ENST00000452236	.	.	.	2.14	2.14	0.27477	.	0.425306	0.18416	N	0.141892	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.8439	0.29414	0.0:1.0:0.0:0.0	.	.	.	.	X	1004	.	ENSP00000395259:E1004X	E	-	1	0	SCAND3	28648635	0.988000	0.35896	1.000000	0.80357	0.989000	0.77384	1.852000	0.39348	1.507000	0.48752	0.561000	0.74099	GAA		0.323	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			16	34	1	0	3.51602e-12	0.008871	4.08699e-12	16	34				
ACTRT2	140625	broad.mit.edu	37	1	2939160	2939160	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:2939160G>A	ENST00000378404.2	+	1	1115	c.910G>A	c.(910-912)Ggc>Agc	p.G304S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	304						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GCTGTCGGGGGGCACTACCCT	0.612																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(910-912)Ggc>Agc		actin-related protein T2							53.0	61.0	58.0					1																	2939160		2201	4300	6501	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2939160G>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.910G>A	1.37:g.2939160G>A	ENSP00000367658:p.Gly304Ser						p.G304S	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1115	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	304					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.910G>A	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529462	0.64860	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	T	0.60424	0.19	4.86	4.86	0.63082	.	0.000000	0.56097	D	0.000040	D	0.84538	0.5494	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90493	0.4468	10	0.87932	D	0	.	16.5657	0.84588	0.0:0.0:1.0:0.0	.	304	Q8TDY3	ACTT2_HUMAN	S	304	ENSP00000367658:G304S	ENSP00000367658:G304S	G	+	1	0	ACTRT2	2929020	1.000000	0.71417	0.936000	0.37596	0.244000	0.25665	7.841000	0.86834	2.248000	0.74166	0.561000	0.74099	GGC		0.612	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		24	53	0	0	0	0.016522	0	24	53				
CMPK1	51727	broad.mit.edu	37	1	47834266	47834266	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:47834266A>G	ENST00000371873.5	+	2	446	c.297A>G	c.(295-297)atA>atG	p.I99M	CMPK1_ENST00000450808.2_Intron	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic											endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						CAGTTGAGATAACCATCAGTT	0.403																																						ENST00000371873.5																			0				endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						c.(295-297)atA>atG		cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	Gemcitabine(DB00441)						105.0	95.0	98.0					1																	47834266		2203	4300	6503	SO:0001583	missense	51727				nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity	g.chr1:47834266A>G	AF070416	CCDS549.1, CCDS44135.1	1p34.1-p33	2008-02-05	2008-01-25	2008-01-25	ENSG00000162368	ENSG00000162368	2.7.4.14		18170	protein-coding gene	gene with protein product	"""UMP-CMP kinase"", ""Cytidine monophosphate kinase"""	191710	"""cytidylate kinase"""	CMPK		10462544	Standard	NM_016308		Approved	UMP-CMPK	uc001cri.3	P30085	OTTHUMG00000007849	ENST00000371873.5:c.297A>G	1.37:g.47834266A>G	ENSP00000360939:p.Ile99Met					CMPK1_ENST00000450808.2_Intron	p.I99M	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN			2	446	+			67						Missense_Mutation	SNP	ENST00000371873.5	37	c.297A>G	CCDS549.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477894	0.63849	.	.	ENSG00000162368	ENST00000371873	T	0.79749	-1.3	5.27	1.28	0.21552	.	0.000000	0.85682	D	0.000000	D	0.85239	0.5651	M	0.76727	2.345	0.80722	D	1	D	0.59357	0.985	P	0.58970	0.849	D	0.84670	0.0711	10	0.87932	D	0	-6.9249	10.2173	0.43177	0.4818:0.0:0.0:0.5182	.	99	B2R6S5	.	M	99	ENSP00000360939:I99M	ENSP00000360937:I99M	I	+	3	3	CMPK1	47606853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.767000	0.38501	0.276000	0.22118	0.455000	0.32223	ATA		0.403	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021646.2	NM_016308		8	24	0	0	0	0.003080	0	8	24				
KLHL1	57626	broad.mit.edu	37	13	70549922	70549922	+	Silent	SNP	G	G	A	rs369830875		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr13:70549922G>A	ENST00000377844.4	-	2	1269	c.510C>T	c.(508-510)acC>acT	p.T170T	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	170					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGAATGGCCGGTTGATGACA	0.378																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(508-510)acC>acT		kelch-like family member 1		G		0,4406		0,0,2203	94.0	82.0	86.0		510	-2.8	0.0	13		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL1	NM_020866.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		170/749	70549922	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70549922G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.510C>T	13.37:g.70549922G>A						KLHL1_ENST00000545028.1_Intron	p.T170T	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	2	1269	-		Breast(118;0.000162)	170					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.510C>T	CCDS9445.1																																																																																				0.378	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		3	30	0	0	0	0.004672	0	3	30				
TMEM39B	55116	broad.mit.edu	37	1	32566231	32566231	+	Intron	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:32566231G>T	ENST00000336294.5	+	8	1382				TMEM39B_ENST00000487305.1_Intron|TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000427288.1_Missense_Mutation_p.C320F	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGGCAGGAATGTGATGTCATT	0.512																																						ENST00000427288.1																			0				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11						c.(958-960)tGt>tTt		transmembrane protein 39B																																				SO:0001627	intron_variant	55116					integral to membrane		g.chr1:32566231G>T	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1236+68G>T	1.37:g.32566231G>T						TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000487305.1_Intron|TMEM39B_ENST00000336294.5_Intron	p.C320F			Q9GZU3	TM39B_HUMAN			9	1439	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.959G>T	CCDS351.2	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096742	0.36952	.	.	ENSG00000121775	ENST00000427288	.	.	.	4.75	1.64	0.23874	.	.	.	.	.	T	0.23330	0.0564	.	.	.	0.18873	N	0.999984	B	0.19583	0.037	B	0.19148	0.024	T	0.22417	-1.0217	6	.	.	.	.	4.8849	0.13697	0.1884:0.0:0.6434:0.1682	.	320	B4DTN8	.	F	320	.	.	C	+	2	0	TMEM39B	32338818	0.001000	0.12720	0.087000	0.20705	0.928000	0.56348	0.181000	0.16880	0.229000	0.21039	0.655000	0.94253	TGT		0.512	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		20	10	1	0	8.81451e-21	0.008871	1.09979e-20	20	10				
CNNM4	26504	broad.mit.edu	37	2	97427416	97427416	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:97427416G>A	ENST00000377075.2	+	1	778	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	227	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AAGGAGAGGCGCTATGCCCGC	0.592																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(679-681)cGc>cAc		cyclin M4							101.0	96.0	98.0					2																	97427416		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427416G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.680G>A	2.37:g.97427416G>A	ENSP00000366275:p.Arg227His						p.R227H	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	778	+			227			DUF21.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.680G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	g	11.62	1.693061	0.30052	.	.	ENSG00000158158	ENST00000377075	D	0.89270	-2.49	4.99	1.03	0.20045	Domain of unknown function DUF21 (1);	0.643718	0.13779	N	0.363321	D	0.84270	0.5435	L	0.49513	1.565	0.20307	N	0.999915	B	0.19200	0.034	B	0.22753	0.041	T	0.71899	-0.4453	10	0.37606	T	0.19	-26.2228	9.6833	0.40082	0.3036:0.0:0.6964:0.0	.	227	Q6P4Q7	CNNM4_HUMAN	H	227	ENSP00000366275:R227H	ENSP00000366275:R227H	R	+	2	0	CNNM4	96791143	1.000000	0.71417	0.496000	0.27539	0.549000	0.35272	1.999000	0.40806	0.142000	0.18901	-0.265000	0.10407	CGC		0.592	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		4	69	0	0	0	0.014758	0	4	69				
FAM71B	153745	broad.mit.edu	37	5	156590666	156590666	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:156590666C>A	ENST00000302938.4	-	2	705	c.610G>T	c.(610-612)Gca>Tca	p.A204S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	204						nucleus (GO:0005634)		p.A204P(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAGCTCTGCAGCCTATACC	0.488																																						ENST00000302938.4																			1	Substitution - Missense(1)	p.A204P(1)	lung(1)	NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(610-612)Gca>Tca		family with sequence similarity 71, member B							76.0	81.0	79.0					5																	156590666		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590666C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.610G>T	5.37:g.156590666C>A	ENSP00000305596:p.Ala204Ser						p.A204S	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	705	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	204					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.610G>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	2.567	-0.300572	0.05495	.	.	ENSG00000170613	ENST00000302938	T	0.03386	3.95	3.9	-7.8	0.01214	.	1.308410	0.05345	N	0.530776	T	0.01800	0.0057	N	0.24115	0.695	0.09310	N	1	B	0.16166	0.016	B	0.17433	0.018	T	0.47235	-0.9133	10	0.05959	T	0.93	0.0542	1.7092	0.02888	0.4736:0.178:0.091:0.2574	.	204	Q8TC56	FA71B_HUMAN	S	204	ENSP00000305596:A204S	ENSP00000305596:A204S	A	-	1	0	FAM71B	156523244	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-2.827000	0.00746	-2.381000	0.00594	-0.182000	0.12963	GCA		0.488	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		18	51	1	0	1.33834e-09	0.007413	1.54249e-09	18	51				
CALHM1	255022	broad.mit.edu	37	10	105218230	105218230	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr10:105218230G>A	ENST00000329905.5	-	1	415	c.279C>T	c.(277-279)ccC>ccT	p.P93P	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	93					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GCAACACAGCGGGGTCCTTGG	0.642																																						ENST00000329905.5																			0				large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						c.(277-279)ccC>ccT		calcium homeostasis modulator 1							28.0	32.0	30.0					10																	105218230		2200	4297	6497	SO:0001819	synonymous_variant	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105218230G>A	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.279C>T	10.37:g.105218230G>A						RP11-225H22.4_ENST00000411906.1_RNA	p.P93P	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN			1	415	-			93					Q5W091	Silent	SNP	ENST00000329905.5	37	c.279C>T	CCDS7550.1																																																																																				0.642	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		17	26	0	0	0	0.028581	0	17	26				
CLEC14A	161198	broad.mit.edu	37	14	38724915	38724915	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr14:38724915G>A	ENST00000342213.2	-	1	659	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	105	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCGTTCTCCAGGGTGCAGTGG	0.692																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(313-315)Ctg>Ttg		C-type lectin domain family 14, member A							19.0	26.0	23.0					14																	38724915		2181	4274	6455	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724915G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.313C>T	14.37:g.38724915G>A							p.L105L	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	659	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		105			C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.313C>T	CCDS9667.1																																																																																				0.692	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		3	8	0	0	0	0.004672	0	3	8				
RP11-252A24.2	0	broad.mit.edu	37	16	74372351	74372351	+	RNA	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:74372351C>G	ENST00000429810.2	-	0	1845																											ACTGTTATCTCAAACTCTGTG	0.368																																						ENST00000429810.2																			0																																																			0							g.chr16:74372351C>G																													16.37:g.74372351C>G														0	1845	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.368	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			13	55	0	0	0	0.016723	0	13	55				
SDHAP1	255812	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GCCCATCACCGCGACCATGGC	0.582																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195711466G>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711466G>T								NR_003264.2						0	481	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.582	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	103	1	0	0.00024832	0.009096	0.00026384	4	103				
CDC6	990	broad.mit.edu	37	17	38450241	38450241	+	Silent	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr17:38450241A>G	ENST00000209728.4	+	6	1347	c.876A>G	c.(874-876)aaA>aaG	p.K292K		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	292					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGGACAGCAAAGGCCAGGATG	0.393																																						ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(874-876)aaA>aaG		cell division cycle 6							321.0	281.0	294.0					17																	38450241		2203	4300	6503	SO:0001819	synonymous_variant	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38450241A>G	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.876A>G	17.37:g.38450241A>G							p.K292K	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			6	1347	+			292					Q8TB30	Silent	SNP	ENST00000209728.4	37	c.876A>G	CCDS11365.1																																																																																				0.393	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			24	79	0	0	0	0.018920	0	24	79				
TTC37	9652	broad.mit.edu	37	5	94820469	94820469	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr5:94820469C>G	ENST00000358746.2	-	38	4310	c.4012G>C	c.(4012-4014)Gac>Cac	p.D1338H		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1338						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTTCCTGTGTCTATTAGACCA	0.348																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(4012-4014)Gac>Cac		tetratricopeptide repeat domain 37							130.0	129.0	130.0					5																	94820469		2202	4300	6502	SO:0001583	missense	9652						binding	g.chr5:94820469C>G	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4012G>C	5.37:g.94820469C>G	ENSP00000351596:p.Asp1338His						p.D1338H	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			38	4310	-			1338					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.4012G>C	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987050	0.53934	.	.	ENSG00000198677	ENST00000358746	T	0.76060	-0.99	5.86	5.86	0.93980	.	0.411631	0.28312	N	0.015804	T	0.63954	0.2555	N	0.24115	0.695	0.47374	D	0.999407	P	0.39131	0.661	B	0.36608	0.229	T	0.61008	-0.7149	10	0.22109	T	0.4	.	20.1996	0.98256	0.0:1.0:0.0:0.0	.	1338	Q6PGP7	TTC37_HUMAN	H	1338	ENSP00000351596:D1338H	ENSP00000351596:D1338H	D	-	1	0	TTC37	94846225	0.995000	0.38212	0.956000	0.39512	0.954000	0.61252	3.639000	0.54339	2.776000	0.95493	0.650000	0.86243	GAC		0.348	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		18	25	0	0	0	0.006122	0	18	25				
COPA	1314	broad.mit.edu	37	1	160262334	160262334	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:160262334C>T	ENST00000241704.7	-	28	3129	c.2900G>A	c.(2899-2901)cGc>cAc	p.R967H	COPA_ENST00000368069.3_Missense_Mutation_p.R976H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	967					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.R976H(2)|p.R967H(2)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATAGGTTGTGCGGCCTCGGGC	0.502																																						ENST00000241704.7																			4	Substitution - Missense(4)	p.R976H(2)|p.R967H(2)	urinary_tract(2)|kidney(2)	central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(2899-2901)cGc>cAc		coatomer protein complex, subunit alpha							168.0	155.0	159.0					1																	160262334		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160262334C>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2900G>A	1.37:g.160262334C>T	ENSP00000241704:p.Arg967His					COPA_ENST00000368069.3_Missense_Mutation_p.R976H	p.R967H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		28	3129	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		967					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.2900G>A	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679953	0.68042	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.49139	0.79;0.79	6.17	6.17	0.99709	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	L	0.58428	1.81	0.80722	D	1	B;D	0.89917	0.224;1.0	B;D	0.72982	0.062;0.979	T	0.41627	-0.9498	10	0.24483	T	0.36	-15.0506	19.4432	0.94831	0.0:1.0:0.0:0.0	.	967;976	P53621;P53621-2	COPA_HUMAN;.	H	976;967	ENSP00000357048:R976H;ENSP00000241704:R967H	ENSP00000241704:R967H	R	-	2	0	COPA	158528958	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	7.567000	0.82357	2.941000	0.99782	0.655000	0.94253	CGC		0.502	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		4	124	0	0	0	0.009096	0	4	124				
MRPL39	54148	broad.mit.edu	37	21	26978860	26978860	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr21:26978860G>C	ENST00000352957.4	-	2	222	c.181C>G	c.(181-183)Cga>Gga	p.R61G	MRPL39_ENST00000307301.7_Missense_Mutation_p.R61G	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	61						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TTCTCAGTTCGGGGAGTTAAT	0.433																																						ENST00000307301.7																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						c.(181-183)Cga>Gga		mitochondrial ribosomal protein L39							108.0	98.0	101.0					21																	26978860		2203	4300	6503	SO:0001583	missense	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26978860G>C	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.181C>G	21.37:g.26978860G>C	ENSP00000284967:p.Arg61Gly					MRPL39_ENST00000352957.4_Missense_Mutation_p.R61G	p.R61G	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN			2	222	-			61					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	c.181C>G	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495489	0.85069	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.43688	0.94;0.94;0.94	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.69931	0.3166	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.992	T	0.73678	-0.3907	10	0.72032	D	0.01	-10.685	19.0849	0.93200	0.0:0.0:1.0:0.0	.	61;61	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	G	61	ENSP00000284967:R61G;ENSP00000305682:R61G;ENSP00000404426:R61G	ENSP00000305682:R61G	R	-	1	2	MRPL39	25900731	1.000000	0.71417	0.850000	0.33497	0.992000	0.81027	5.086000	0.64474	2.843000	0.97960	0.591000	0.81541	CGA		0.433	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		10	40	0	0	0	0.006214	0	10	40				
AXL	558	broad.mit.edu	37	19	41749592	41749592	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:41749592G>A	ENST00000301178.4	+	12	1707	c.1517G>A	c.(1516-1518)cGt>cAt	p.R506H	AXL_ENST00000359092.3_Missense_Mutation_p.R497H|AXL_ENST00000593513.1_Missense_Mutation_p.R238H	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	506					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TCCTACAGTCGTCGGACCACT	0.562																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1516-1518)cGt>cAt		AXL receptor tyrosine kinase							152.0	130.0	138.0					19																	41749592		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41749592G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1517G>A	19.37:g.41749592G>A	ENSP00000301178:p.Arg506His					AXL_ENST00000593513.1_Missense_Mutation_p.R238H|AXL_ENST00000359092.3_Missense_Mutation_p.R497H	p.R506H	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			12	1707	+			506					Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1517G>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	g	26.7	4.758936	0.89843	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.76448	-1.02;-0.98	3.9	3.9	0.45041	.	0.064498	0.64402	D	0.000007	D	0.84938	0.5583	L	0.58510	1.815	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.939	D	0.87045	0.2143	10	0.87932	D	0	-12.3149	15.2126	0.73238	0.0:0.0:1.0:0.0	.	497;506	P30530-2;P30530	.;UFO_HUMAN	H	506;497	ENSP00000301178:R506H;ENSP00000351995:R497H	ENSP00000301178:R506H	R	+	2	0	AXL	46441432	1.000000	0.71417	0.973000	0.42090	0.991000	0.79684	7.925000	0.87563	2.177000	0.69029	0.549000	0.68633	CGT		0.562	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			38	72	0	0	0	0.023175	0	38	72				
MIR518F	574472	broad.mit.edu	37	19	54206072	54206072	+	RNA	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:54206072G>C	ENST00000384973.1	+	0	87				MIR520B_ENST00000384989.1_RNA|MIR518B_ENST00000385127.1_RNA	NR_030194.1				microRNA 518f																		TTTACGGTTTGAGTAAAGCAG	0.463																																						ENST00000385127.1																			0																				61.0	56.0	58.0					19																	54206072		1568	3582	5150			574474							g.chr19:54206072G>C			19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54206072G>C								NR_030196.1						0	82	+									RNA	SNP	ENST00000384973.1	37																																																																																						0.463	MIR518F-201	KNOWN	basic	miRNA	miRNA		NR_030194		7	31	0	0	0	0.001984	0	7	31				
RAI1	10743	broad.mit.edu	37	17	17697704	17697704	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr17:17697704G>T	ENST00000353383.1	+	3	1911	c.1442G>T	c.(1441-1443)tGc>tTc	p.C481F	RAI1_ENST00000261641.6_Missense_Mutation_p.C481F	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	481					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCCAGCACTGCAGCCCCGAA	0.652																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(1441-1443)tGc>tTc		retinoic acid induced 1							36.0	40.0	39.0					17																	17697704		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697704G>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.1442G>T	17.37:g.17697704G>T	ENSP00000323074:p.Cys481Phe					RAI1_ENST00000261641.6_Missense_Mutation_p.C481F	p.C481F	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1911	+			481					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.1442G>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850845	0.71719	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.74737	-0.87;1.37;-0.27	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.85695	0.5756	M	0.71581	2.175	0.49582	D	0.999801	D	0.76494	0.999	D	0.80764	0.994	D	0.84648	0.0699	10	0.40728	T	0.16	.	19.1717	0.93580	0.0:0.0:1.0:0.0	.	481	Q7Z5J4	RAI1_HUMAN	F	481;481;481;481;481;433	ENSP00000323074:C481F;ENSP00000379120:C481F;ENSP00000261641:C481F	ENSP00000261641:C481F	C	+	2	0	RAI1	17638429	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.141000	0.58038	2.541000	0.85698	0.561000	0.74099	TGC		0.652	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		19	66	1	0	4.63292e-17	0.008871	5.527e-17	19	66				
E2F7	144455	broad.mit.edu	37	12	77439832	77439832	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr12:77439832G>T	ENST00000322886.7	-	5	1050	c.815C>A	c.(814-816)cCc>cAc	p.P272H	E2F7_ENST00000416496.2_Missense_Mutation_p.P272H	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	272					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGGACAGTCGGGTTCAGAGAA	0.433																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(814-816)cCc>cAc		E2F transcription factor 7							121.0	115.0	117.0					12																	77439832		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77439832G>T	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.815C>A	12.37:g.77439832G>T	ENSP00000323246:p.Pro272His					E2F7_ENST00000416496.2_Missense_Mutation_p.P272H	p.P272H	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			5	1050	-			272					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.815C>A	CCDS9016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.14|12.14	1.848402|1.848402	0.32699|0.32699	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669|ENST00000551058	T;T;T|T	0.19532|0.29142	2.4;2.14;2.15|1.58	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.781740|0.781740	0.12739|0.12739	N|N	0.443211|0.443211	T|T	0.45418|0.45418	0.1341|0.1341	L|L	0.57536|0.57536	1.79|1.79	0.37443|0.37443	D|D	0.914516|0.914516	D;D|.	0.69078|.	0.997;0.997|.	P;P|.	0.55999|.	0.789;0.754|.	T|T	0.22836|0.22836	-1.0205|-1.0205	10|8	0.59425|0.13108	D|T	0.04|0.6	-6.2747|-6.2747	19.5674|19.5674	0.95401|0.95401	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	272;272|.	F8VSE7;Q96AV8|.	.;E2F7_HUMAN|.	H|T	272|150	ENSP00000323246:P272H;ENSP00000393639:P272H;ENSP00000448245:P272H|ENSP00000449284:P150T	ENSP00000323246:P272H|ENSP00000449284:P150T	P|P	-|-	2|1	0|0	E2F7|E2F7	75963963|75963963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	5.506000|5.506000	0.66993|0.66993	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CCC|CCG		0.433	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		12	34	1	0	0.000978159	0.010729	0.00101549	12	34				
GCNT1	2650	broad.mit.edu	37	9	79117750	79117750	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr9:79117750C>T	ENST00000376730.4	+	4	936	c.453C>T	c.(451-453)tgC>tgT	p.C151C	GCNT1_ENST00000444201.2_Silent_p.C151C|GCNT1_ENST00000536223.1_Silent_p.C151C|GCNT1_ENST00000442371.1_Silent_p.C151C	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	151	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						ATTTCTATTGCATTCATGTGG	0.443																																						ENST00000442371.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(451-453)tgC>tgT		glucosaminyl (N-acetyl) transferase 1, core 2							70.0	70.0	70.0					9																	79117750		2203	4300	6503	SO:0001819	synonymous_variant	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117750C>T	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.453C>T	9.37:g.79117750C>T						GCNT1_ENST00000376730.4_Silent_p.C151C|GCNT1_ENST00000536223.1_Silent_p.C151C|GCNT1_ENST00000444201.2_Silent_p.C151C	p.C151C	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN			3	1392	+			151			Catalytic (By similarity).		Q6DJZ4	Silent	SNP	ENST00000376730.4	37	c.453C>T	CCDS6653.1																																																																																				0.443	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		22	35	0	0	0	0.010504	0	22	35				
OR2H1	26716	broad.mit.edu	37	6	29429639	29429639	+	Silent	SNP	T	T	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:29429639T>A	ENST00000377136.1	+	4	558	c.93T>A	c.(91-93)acT>acA	p.T31T	OR2H1_ENST00000442615.1_Silent_p.T31T|OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000396792.2_Silent_p.T31T|OR2H1_ENST00000377133.1_Silent_p.T31T|OR2H1_ENST00000377132.1_Silent_p.T31T			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						TTGTCTTCACTTCCTACCTCT	0.522																																						ENST00000377136.1																			0				large_intestine(5)|lung(12)	17						c.(91-93)acT>acA		olfactory receptor, family 2, subfamily H, member 1							213.0	207.0	209.0					6																	29429639		1511	2709	4220	SO:0001819	synonymous_variant	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29429639T>A	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.93T>A	6.37:g.29429639T>A						OR2H1_ENST00000377132.1_Silent_p.T31T|OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000442615.1_Silent_p.T31T|OR2H1_ENST00000377133.1_Silent_p.T31T|OR2H1_ENST00000396792.2_Silent_p.T31T	p.T31T			Q9GZK4	OR2H1_HUMAN			4	558	+			31					B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Silent	SNP	ENST00000377136.1	37	c.93T>A	CCDS4660.1																																																																																				0.522	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			4	166	0	0	0	0.009096	0	4	166				
PABPC4	8761	broad.mit.edu	37	1	40034520	40034520	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:40034520T>A	ENST00000372857.3	-	6	1622	c.830A>T	c.(829-831)aAa>aTa	p.K277I	PABPC4_ENST00000372862.3_Missense_Mutation_p.K277I|RP11-69E11.8_ENST00000415255.1_RNA|SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000529216.1_5'Flank|PABPC4_ENST00000372856.3_Missense_Mutation_p.K277I|PABPC4_ENST00000372858.3_Missense_Mutation_p.K277I	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	277					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAATTTCCGTTTTAACTCTGC	0.418																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(829-831)aAa>aTa		poly(A) binding protein, cytoplasmic 4 (inducible form)							223.0	206.0	212.0					1																	40034520		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40034520T>A	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.830A>T	1.37:g.40034520T>A	ENSP00000361948:p.Lys277Ile					RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.K277I|PABPC4_ENST00000372858.3_Missense_Mutation_p.K277I|PABPC4_ENST00000372862.3_Missense_Mutation_p.K277I	p.K277I	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	1622	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	277					B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.830A>T	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	35|35	5.438851|5.438851	0.96168|0.96168	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856|ENST00000421687;ENST00000527718;ENST00000474378	T;T;T;T|.	0.05786|.	3.39;3.39;3.39;3.39|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88621|0.88621	0.6486|0.6486	H|H	0.97440|0.97440	4.005|4.005	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;0.998|.	D;D;D|.	0.74674|.	0.949;0.984;0.978|.	D|D	0.92476|0.92476	0.5989|0.5989	10|5	0.87932|.	D|.	0|.	.|.	16.5885|16.5885	0.84745|0.84745	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	277;277;277|.	Q13310;Q13310-2;Q4VC03|.	PABP4_HUMAN;.;.|.	I|Y	277|179;4;190	ENSP00000361953:K277I;ENSP00000361949:K277I;ENSP00000361948:K277I;ENSP00000361947:K277I|.	ENSP00000361947:K277I|.	K|N	-|-	2|1	0|0	PABPC4|PABPC4	39807107|39807107	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	AAA|AAC		0.418	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		28	64	0	0	0	0.008361	0	28	64				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	173	0	0	0	0.004672	0	3	173				
SLC4A7	9497	broad.mit.edu	37	3	27477926	27477926	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:27477926C>A	ENST00000295736.5	-	5	585	c.515G>T	c.(514-516)gGa>gTa	p.G172V	SLC4A7_ENST00000446700.1_Missense_Mutation_p.G177V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G181V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G172V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G181V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G177V|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000425128.2_Missense_Mutation_p.G177V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G181V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G181V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G177V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	172					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CATGACTGTTCCATTGAGGAT	0.398																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(514-516)gGa>gTa		solute carrier family 4, sodium bicarbonate cotransporter, member 7							103.0	96.0	98.0					3																	27477926		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27477926C>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.515G>T	3.37:g.27477926C>A	ENSP00000295736:p.Gly172Val					SLC4A7_ENST00000435667.2_Missense_Mutation_p.G181V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G181V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G181V|SLC4A7_ENST00000425128.2_Missense_Mutation_p.G177V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G172V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G181V|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G177V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G177V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G177V	p.G172V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			5	585	-			172					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.515G>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158725	0.94686	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.07	6.07	0.98685	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.91352	0.7272	M	0.91249	3.19	0.80722	D	1	D;D;D;P;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.786;1.0;1.0;0.998;1.0;0.998	D;D;D;P;D;D;D;D;D	0.97110	0.996;0.997;0.992;0.752;1.0;0.998;0.995;1.0;0.997	D	0.91991	0.5603	10	0.87932	D	0	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	181;177;177;181;181;177;172;172;177	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	V	172;172;181;181;177;177;177;181;181;177;172	ENSP00000295736:G172V;ENSP00000416368:G172V;ENSP00000390394:G181V;ENSP00000414797:G181V;ENSP00000394252:G177V;ENSP00000406605:G177V;ENSP00000407382:G177V;ENSP00000406804:G181V;ENSP00000395336:G181V;ENSP00000401949:G177V;ENSP00000388703:G172V	ENSP00000295736:G172V	G	-	2	0	SLC4A7	27452930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.890000	0.99128	0.585000	0.79938	GGA		0.398	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		11	30	1	0	4.68919e-08	0.008291	5.27049e-08	11	30				
ABCC10	89845	broad.mit.edu	37	6	43403844	43403844	+	Intron	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:43403844A>G	ENST00000372530.4	+	6	1980				ABCC10_ENST00000244533.3_Silent_p.L550L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTGGTAGATTAGGAGCCCAAA	0.488																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1648-1650)ttA>ttG		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							136.0	139.0	138.0					6																	43403844		2203	4300	6503	SO:0001627	intron_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403844A>G	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1766-32A>G	6.37:g.43403844A>G						ABCC10_ENST00000372530.4_Intron	p.L550L	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		4	2009	+	all_lung(25;0.00536)		589			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.1650A>G	CCDS56430.1																																																																																				0.488	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		3	151	0	0	0	0.009096	0	3	151				
CDKN2A	1029	broad.mit.edu	37	9	21974678	21974678	+	Splice_Site	SNP	T	T	C	rs587778189		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr9:21974678T>C	ENST00000304494.5	-	1	419	c.149A>G	c.(148-150)cAg>cGg	p.Q50R	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Splice_Site_p.Q50R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Splice_Site_p.Q50R|CDKN2A_ENST00000446177.1_Splice_Site_p.Q50R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2). {ECO:0000269|PubMed:8595405}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(25)|p.Q50R(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCTACCCACCTGGATCGGCCT	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1343	Whole gene deletion(1316)|Unknown(25)|Substitution - Missense(1)|Deletion - In frame(1)	p.0?(1315)|p.?(25)|p.Q50R(1)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(49)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM056554|CM950228|CS022094	CDKN2A	M|S		c.e1+1		cyclin-dependent kinase inhibitor 2A							89.0	104.0	99.0					9																	21974678		2203	4300	6503	SO:0001630	splice_region_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974678T>C	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.150+1A>G	9.37:g.21974678T>C		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Splice_Site_p.Q50_splice|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Splice_Site_p.Q50_splice|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Splice_Site_p.Q50_splice	p.Q50_splice	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	419	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	50		Q -> R (in CMM2).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	ENST00000304494.5	37	c.150_splice	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.694575	0.48202	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.76839	-1.05;-1.05	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.79627	0.4478	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.999;0.999	T	0.78666	-0.2115	9	0.33940	T	0.23	.	13.8927	0.63750	0.0:0.0:0.0:1.0	.	50;50	P42771;G3XAG3	CD2A1_HUMAN;.	R	50	ENSP00000307101:Q50R;ENSP00000394932:Q50R	ENSP00000307101:Q50R	Q	-	2	0	CDKN2A	21964678	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	4.069000	0.57541	2.165000	0.68154	0.533000	0.62120	CAG		0.682	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Missense_Mutation	94	81	0	0	0	0.014410	0	94	81				
LRP11	84918	broad.mit.edu	37	6	150174158	150174158	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:150174158T>C	ENST00000239367.2	-	2	757	c.752A>G	c.(751-753)gAc>gGc	p.D251G	RP11-350J20.12_ENST00000472053.2_RNA|LRP11_ENST00000367368.2_Missense_Mutation_p.D251G|LRP11_ENST00000546019.1_5'UTR	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	251	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CACTGACGGGTCCCCCTGCAG	0.542																																						ENST00000239367.2																			0				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8						c.(751-753)gAc>gGc		low density lipoprotein receptor-related protein 11							90.0	80.0	84.0					6																	150174158		2203	4300	6503	SO:0001583	missense	84918					integral to membrane	receptor activity	g.chr6:150174158T>C	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.752A>G	6.37:g.150174158T>C	ENSP00000239367:p.Asp251Gly					LRP11_ENST00000546019.1_5'UTR|LRP11_ENST00000367368.2_Missense_Mutation_p.D251G	p.D251G	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	2	757	-		Ovarian(120;0.0907)	251			PKD.		Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	c.752A>G	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.886078	0.72410	.	.	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.26223	1.75;1.75	5.45	5.45	0.79879	PKD/Chitinase domain (1);PKD domain (3);	0.106348	0.64402	D	0.000007	T	0.12987	0.0315	L	0.46670	1.46	0.80722	D	1	P;P	0.40431	0.717;0.626	B;B	0.38264	0.269;0.26	T	0.03717	-1.1010	10	0.72032	D	0.01	-18.7242	9.69	0.40123	0.0:0.0:0.1746:0.8254	.	251;251	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	G	251	ENSP00000239367:D251G;ENSP00000356338:D251G	ENSP00000239367:D251G	D	-	2	0	LRP11	150215851	1.000000	0.71417	0.980000	0.43619	0.923000	0.55619	4.318000	0.59190	2.071000	0.62044	0.482000	0.46254	GAC		0.542	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		4	54	0	0	0	0.014758	0	4	54				
SLC12A8	84561	broad.mit.edu	37	3	124906105	124906105	+	Silent	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:124906105G>A	ENST00000393469.4	-	3	415	c.366C>T	c.(364-366)atC>atT	p.I122I	SLC12A8_ENST00000469902.1_Silent_p.I122I|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000423114.2_Silent_p.I151I	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	122					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						AGAGCAGCCCGATGGTGCCTC	0.627																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(451-453)atC>atT		solute carrier family 12, member 8							47.0	64.0	58.0					3																	124906105		2134	4234	6368	SO:0001819	synonymous_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124906105G>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.366C>T	3.37:g.124906105G>A						SLC12A8_ENST00000393469.4_Silent_p.I122I|SLC12A8_ENST00000469902.1_Silent_p.I122I|SLC12A8_ENST00000314584.7_5'UTR	p.I151I			A0AV02	S12A8_HUMAN			4	452	-			122					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	ENST00000393469.4	37	c.453C>T	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505631	0.44558	.	.	ENSG00000221955	ENST00000479826	T	0.76839	-1.05	5.18	-8.36	0.00980	.	.	.	.	.	T	0.65647	0.2711	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58211	-0.7676	5	.	.	.	.	4.801	0.13296	0.5508:0.2552:0.1088:0.0852	.	.	.	.	W	82	ENSP00000420197:R82W	.	R	-	1	2	SLC12A8	126388795	0.005000	0.15991	0.004000	0.12327	0.986000	0.74619	-0.972000	0.03802	-1.865000	0.01147	-0.366000	0.07423	CGG		0.627	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		14	72	0	0	0	0.020292	0	14	72				
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	lincRNA	SNP	A	A	G	rs201050938	byFrequency	TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562																																						ENST00000565869.1																			0																																																			645752							g.chr15:78212618A>G																													15.37:g.78212618A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	44	0	0	0	0.004672	0	3	44				
FLRT2	23768	broad.mit.edu	37	14	86088851	86088851	+	Silent	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr14:86088851T>C	ENST00000330753.4	+	2	1760	c.993T>C	c.(991-993)tcT>tcC	p.S331S	FLRT2_ENST00000554746.1_Silent_p.S331S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	331	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCCCTTCATCTCTCAACGTGC	0.488																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(991-993)tcT>tcC		fibronectin leucine rich transmembrane protein 2							141.0	151.0	148.0					14																	86088851		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088851T>C	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.993T>C	14.37:g.86088851T>C						FLRT2_ENST00000554746.1_Silent_p.S331S	p.S331S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1760	+			331			LRRCT.		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.993T>C	CCDS9877.1																																																																																				0.488	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			38	216	0	0	0	0.017118	0	38	216				
LCLAT1	253558	broad.mit.edu	37	2	30863047	30863047	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:30863047G>C	ENST00000309052.4	+	7	1016	c.807G>C	c.(805-807)gaG>gaC	p.E269D	LCLAT1_ENST00000540623.1_Missense_Mutation_p.E231D|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E231D|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	269					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CTCAATCAGAGAAGCACCTCC	0.473																																						ENST00000309052.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						c.(805-807)gaG>gaC		lysocardiolipin acyltransferase 1							156.0	150.0	152.0					2																	30863047		2203	4300	6503	SO:0001583	missense	253558				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:30863047G>C	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.807G>C	2.37:g.30863047G>C	ENSP00000310551:p.Glu269Asp					LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E231D|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E231D	p.E269D	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN			7	1016	+			269					A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	c.807G>C	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103707	0.56291	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000309052;ENST00000540623	T;T;T	0.33654	1.41;1.4;1.41	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.63010	0.2475	M	0.84511	2.7	0.54753	D	0.999987	D	0.76494	0.999	D	0.85130	0.997	T	0.62882	-0.6760	10	0.35671	T	0.21	-28.1583	14.1788	0.65559	0.0711:0.0:0.9289:0.0	.	269	Q6UWP7	LCLT1_HUMAN	D	231;231;269;231	ENSP00000368823:E231D;ENSP00000310551:E269D;ENSP00000442857:E231D	ENSP00000310551:E269D	E	+	3	2	LCLAT1	30716551	1.000000	0.71417	0.993000	0.49108	0.188000	0.23474	4.082000	0.57635	2.720000	0.93068	0.557000	0.71058	GAG		0.473	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		51	63	0	0	0	0.014410	0	51	63				
TFPT	29844	broad.mit.edu	37	19	54611775	54611775	+	Intron	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr19:54611775G>A	ENST00000391759.1	-	4	759				NDUFA3_ENST00000391764.3_Silent_p.E64E|TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391757.1_Intron	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)						apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					ACAGGATAGAGCTCAGCTCCC	0.592			T	TCF3	pre-B ALL																																	ENST00000391764.3				Dom	yes		19	19q13	29844		TCF3 (E2A) fusion partner (in childhood Leukemia)			L					0				breast(1)|endometrium(1)	2						c.(190-192)gaG>gaA		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	NADH(DB00157)						47.0	45.0	46.0					19																	54611775		876	1991	2867	SO:0001627	intron_variant	4696				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:54611775G>A	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.354-73C>T	19.37:g.54611775G>A						TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391759.1_Intron	p.E64E			O95167	NDUA3_HUMAN			4	202	+	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		65						Silent	SNP	ENST00000391759.1	37	c.192G>A	CCDS12878.1																																																																																				0.592	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		6	34	0	0	0	0.001984	0	6	34				
VWA3B	200403	broad.mit.edu	37	2	98852910	98852910	+	Missense_Mutation	SNP	C	C	T	rs375038927		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:98852910C>T	ENST00000477737.1	+	18	2690	c.2486C>T	c.(2485-2487)aCg>aTg	p.T829M		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	829								p.T829M(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAAAAGGTGACGCGAGAAGGA	0.423																																						ENST00000477737.1																			1	Substitution - Missense(1)	p.T829M(1)	endometrium(1)	NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2485-2487)aCg>aTg		von Willebrand factor A domain containing 3B		C	MET/THR	0,3882		0,0,1941	138.0	144.0	142.0		2486	2.7	0.0	2		142	1,8295		0,1,4147	no	missense	VWA3B	NM_144992.4	81	0,1,6088	TT,TC,CC		0.0121,0.0,0.0082	possibly-damaging	829/1295	98852910	1,12177	1941	4148	6089	SO:0001583	missense	200403							g.chr2:98852910C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2486C>T	2.37:g.98852910C>T	ENSP00000417955:p.Thr829Met						p.T829M	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			18	2690	+			829					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2486C>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133889	0.37630	0.0	1.21E-4	ENSG00000168658	ENST00000477737	T	0.06687	3.27	4.76	2.68	0.31781	.	0.690061	0.13013	N	0.420696	T	0.13157	0.0319	L	0.43152	1.355	0.09310	N	0.999999	D;P;P;B	0.65815	0.995;0.947;0.856;0.109	P;B;B;B	0.56474	0.799;0.226;0.312;0.006	T	0.17228	-1.0376	10	0.52906	T	0.07	.	4.0921	0.09973	0.0:0.59:0.239:0.171	.	221;829;829;829	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	M	829	ENSP00000417955:T829M	ENSP00000417955:T829M	T	+	2	0	VWA3B	98219342	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.303000	0.19210	0.331000	0.23511	0.591000	0.81541	ACG		0.423	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		22	45	0	0	0	0.010504	0	22	45				
PLD1	5337	broad.mit.edu	37	3	171394572	171394572	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr3:171394572G>A	ENST00000351298.4	-	18	2174	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F	PLD1_ENST00000342215.6_Silent_p.L574L|PLD1_ENST00000340989.4_Missense_Mutation_p.S683F|PLD1_ENST00000356327.5_Missense_Mutation_p.S645F	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	683	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.S683F(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGGACTGCAGAGGCAATGTC	0.532																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			1	Substitution - Missense(1)	p.S683F(1)	lung(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1933-1935)tCt>tTt		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						83.0	73.0	77.0					3																	171394572		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171394572G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2048C>T	3.37:g.171394572G>A	ENSP00000342793:p.Ser683Phe					PLD1_ENST00000351298.4_Missense_Mutation_p.S683F|PLD1_ENST00000340989.4_Missense_Mutation_p.S683F|PLD1_ENST00000342215.6_Silent_p.L574L	p.S645F	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		17	2004	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		683			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.1934C>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320675	0.81469	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989	T;T;T	0.20881	2.04;2.04;2.04	5.81	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	L	0.47190	1.495	0.80722	D	1	D;D;D	0.58970	0.979;0.964;0.984	P;P;P	0.58873	0.847;0.737;0.809	T	0.07121	-1.0789	10	0.54805	T	0.06	-18.0005	14.965	0.71184	0.0683:0.0:0.9317:0.0	.	645;668;683	Q13393-2;Q59EA4;Q13393	.;.;PLD1_HUMAN	F	645;683;683	ENSP00000348681:S645F;ENSP00000342793:S683F;ENSP00000340326:S683F	ENSP00000340326:S683F	S	-	2	0	PLD1	172877266	1.000000	0.71417	0.851000	0.33527	0.765000	0.43378	8.062000	0.89475	1.473000	0.48159	0.557000	0.71058	TCT		0.532	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		8	81	0	0	0	0.004482	0	8	81				
SSTR3	6753	broad.mit.edu	37	22	37603361	37603361	+	Missense_Mutation	SNP	C	C	T	rs371788740		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr22:37603361C>T	ENST00000328544.3	-	2	1015	c.482G>A	c.(481-483)cGc>cAc	p.R161H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R161H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	161					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCTGACCGTGCGGGCCACCGG	0.682																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(481-483)cGc>cAc		somatostatin receptor 3		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	44.0	43.0	43.0		482	5.6	0.9	22		43	0,8592		0,0,4296	no	missense	SSTR3	NM_001051.2	29	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	161/419	37603361	1,12993	2201	4296	6497	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603361C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.482G>A	22.37:g.37603361C>T	ENSP00000330138:p.Arg161His					SSTR3_ENST00000402501.1_Missense_Mutation_p.R161H	p.R161H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1015	-			161					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.482G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394678	0.83011	2.27E-4	0.0	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.38077	1.16;1.16	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.063307	0.56097	D	0.000034	T	0.41305	0.1153	N	0.25245	0.725	0.43830	D	0.996408	D	0.69078	0.997	D	0.70487	0.969	T	0.38499	-0.9658	10	0.87932	D	0	.	7.3754	0.26825	0.0:0.799:0.0:0.201	.	161	P32745	SSR3_HUMAN	H	161	ENSP00000330138:R161H;ENSP00000384904:R161H	ENSP00000330138:R161H	R	-	2	0	SSTR3	35933307	1.000000	0.71417	0.893000	0.35052	0.830000	0.47004	4.976000	0.63785	2.658000	0.90341	0.557000	0.71058	CGC		0.682	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			53	59	0	0	0	0.014410	0	53	59				
UGT2B4	7363	broad.mit.edu	37	4	70360857	70360857	+	Splice_Site	SNP	A	A	G	rs377159596		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:70360857A>G	ENST00000305107.6	-	1	768		c.e1+1		UGT2B4_ENST00000512583.1_Splice_Site|UGT2B4_ENST00000381096.3_Splice_Site|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4						cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	AAAGTTACTTACCTAGAACTT	0.333																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.e1+1		UDP glucuronosyltransferase 2 family, polypeptide B4		A		0,4278		0,0,2139	51.0	51.0	51.0			2.4	0.6	4		51	1,8565		0,1,4282	no	splice-5	UGT2B4	NM_021139.2		0,1,6421	GG,GA,AA		0.0117,0.0,0.0078			70360857	1,12843	2139	4283	6422	SO:0001630	splice_region_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70360857A>G	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.721+1T>C	4.37:g.70360857A>G						UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Splice_Site|UGT2B4_ENST00000381096.3_Splice_Site		NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	768	-								A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Splice_Site	SNP	ENST00000305107.6	37		CCDS43234.1	.	.	.	.	.	.	.	.	.	.	A	10.76	1.440519	0.25900	0.0	1.17E-4	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	.	.	.	2.4	2.4	0.29515	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3598	0.32353	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UGT2B4	70395446	1.000000	0.71417	0.569000	0.28460	0.187000	0.23431	5.843000	0.69424	1.101000	0.41535	0.248000	0.18094	.		0.333	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139	Intron	8	17	0	0	0	0.003080	0	8	17				
EGFR	1956	broad.mit.edu	37	7	55210023	55210023	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:55210023G>C	ENST00000275493.2	+	2	310	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000442591.1_Missense_Mutation_p.E45Q|EGFR_ENST00000344576.2_Missense_Mutation_p.E45Q|EGFR_ENST00000455089.1_Missense_Mutation_p.E45Q|EGFR_ENST00000420316.2_Missense_Mutation_p.E45Q|EGFR_ENST00000342916.3_Missense_Mutation_p.E45Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	45			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGGCACTTTTGAAGATCATTT	0.398		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(133-135)Gaa>Caa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						170.0	159.0	163.0					7																	55210023		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210023G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.133G>C	7.37:g.55210023G>C	ENSP00000275493:p.Glu45Gln	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000342916.3_Missense_Mutation_p.E45Q|EGFR_ENST00000442591.1_Missense_Mutation_p.E45Q|EGFR_ENST00000420316.2_Missense_Mutation_p.E45Q|EGFR_ENST00000344576.2_Missense_Mutation_p.E45Q|EGFR_ENST00000455089.1_Missense_Mutation_p.E45Q	p.E45Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	310	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		45					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.133G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140929	0.94560	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591	T;T;T;T;T;T	0.81247	-1.04;-1.44;-1.47;-1.32;-0.97;-1.44	6.05	6.05	0.98169	.	0.236356	0.49916	D	0.000130	D	0.88040	0.6330	M	0.69823	2.125	0.80722	D	1	P;P;D;D;P	0.63880	0.75;0.591;0.993;0.987;0.922	B;B;P;P;P	0.58266	0.314;0.193;0.836;0.789;0.522	D	0.88049	0.2786	10	0.66056	D	0.02	.	19.1651	0.93553	0.0:0.0:1.0:0.0	.	45;45;45;45;45	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Q	45	ENSP00000415559:E45Q;ENSP00000342376:E45Q;ENSP00000345973:E45Q;ENSP00000413843:E45Q;ENSP00000275493:E45Q;ENSP00000410031:E45Q	ENSP00000275493:E45Q	E	+	1	0	EGFR	55177517	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	7.608000	0.82898	2.878000	0.98634	0.650000	0.86243	GAA		0.398	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		5	350	0	0	0	0.014758	0	5	350				
ZNF185	7739	broad.mit.edu	37	X	152113985	152113985	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:152113985C>T	ENST00000370268.4	+	16	1420	c.1383C>T	c.(1381-1383)gtC>gtT	p.V461V	ZNF185_ENST00000324823.6_Silent_p.V229V|ZNF185_ENST00000454925.1_Silent_p.V99V|ZNF185_ENST00000318529.8_Silent_p.V240V|ZNF185_ENST00000539731.1_Silent_p.V464V|ZNF185_ENST00000318504.7_Silent_p.V402V|ZNF185_ENST00000449285.2_Silent_p.V462V|ZNF185_ENST00000535861.1_Silent_p.V493V|ZNF185_ENST00000370270.2_Silent_p.V493V			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	461						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAACTTGTCAGACGAGAGA	0.607																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(1477-1479)gtC>gtT		zinc finger protein 185 (LIM domain)							27.0	32.0	30.0					X																	152113985		2065	4175	6240	SO:0001819	synonymous_variant	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152113985C>T	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1383C>T	X.37:g.152113985C>T						ZNF185_ENST00000370270.1_Silent_p.V224V|ZNF185_ENST00000539731.1_Silent_p.V464V|ZNF185_ENST00000370268.4_Silent_p.V461V|ZNF185_ENST00000324823.6_Silent_p.V229V|ZNF185_ENST00000449285.2_Silent_p.V462V|ZNF185_ENST00000318504.7_Silent_p.V402V|ZNF185_ENST00000318529.8_Silent_p.V240V	p.V493V	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			17	1527	+	Acute lymphoblastic leukemia(192;6.56e-05)		461					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Silent	SNP	ENST00000370268.4	37	c.1479C>T	CCDS48184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.569|2.569	-0.300171|-0.300171	0.05532|0.05532	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000426821|ENST00000454925	.|.	.|.	.|.	2.54|2.54	-3.51|-3.51	0.04696|0.04696	.|.	.|.	.|.	.|.	.|.	.|T	.|0.17746	.|0.0426	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.22452	.|-1.0216	.|4	.|.	.|.	.|.	.|.	1.1798|1.1798	0.01843|0.01843	0.134:0.259:0.3175:0.2895|0.134:0.259:0.3175:0.2895	.|.	.|.	.|.	.|.	X|L	247|102	.|.	.|.	Q|S	+|+	1|2	0|0	ZNF185|ZNF185	151864641|151864641	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.770000|-1.770000	0.01791|0.01791	-1.228000|-1.228000	0.02568|0.02568	-0.511000|-0.511000	0.04467|0.04467	CAG|TCA		0.607	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		6	3	0	0	0	0.021553	0	6	3				
PEAK1	79834	broad.mit.edu	37	15	77474216	77474216	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr15:77474216T>C	ENST00000560626.2	-	4	528	c.53A>G	c.(52-54)aAg>aGg	p.K18R	PEAK1_ENST00000312493.4_Missense_Mutation_p.K18R|PEAK1_ENST00000558305.1_Missense_Mutation_p.K18R			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	18					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AAAGCAATTCTTGCATTCACC	0.408																																						ENST00000560626.2																			0											c.(52-54)aAg>aGg		pseudopodium-enriched atypical kinase 1							118.0	114.0	115.0					15																	77474216		1868	4096	5964	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77474216T>C		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.53A>G	15.37:g.77474216T>C	ENSP00000452796:p.Lys18Arg					PEAK1_ENST00000312493.4_Missense_Mutation_p.K18R|PEAK1_ENST00000558305.1_Missense_Mutation_p.K18R	p.K18R			Q9H792	PEAK1_HUMAN			4	528	-			18					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.53A>G	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242299	0.79912	.	.	ENSG00000173517	ENST00000312493	T	0.76578	-1.03	6.07	6.07	0.98685	.	0.000000	0.34986	U	0.003525	D	0.86447	0.5935	L	0.57536	1.79	0.51012	D	0.999904	D	0.89917	1.0	D	0.85130	0.997	D	0.87454	0.2403	10	0.87932	D	0	-10.1789	16.6277	0.84984	0.0:0.0:0.0:1.0	.	18	Q9H792	PEAK1_HUMAN	R	18	ENSP00000309230:K18R	ENSP00000309230:K18R	K	-	2	0	AC087465.1	75261271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.856000	0.86956	2.330000	0.79161	0.528000	0.53228	AAG		0.408	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			23	43	0	0	0	0.012319	0	23	43				
XRN2	22803	broad.mit.edu	37	20	21312236	21312236	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr20:21312236A>G	ENST00000377191.3	+	7	709	c.614A>G	c.(613-615)gAa>gGa	p.E205G	XRN2_ENST00000539513.1_Missense_Mutation_p.E151G|XRN2_ENST00000430571.2_Missense_Mutation_p.E129G	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	205					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GGTGAAGGAGAACATAAAATC	0.289																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(613-615)gAa>gGa		5'-3' exoribonuclease 2							63.0	66.0	65.0					20																	21312236		2203	4299	6502	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21312236A>G	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.614A>G	20.37:g.21312236A>G	ENSP00000366396:p.Glu205Gly					XRN2_ENST00000430571.2_Missense_Mutation_p.E129G|XRN2_ENST00000539513.1_Missense_Mutation_p.E151G	p.E205G	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			7	709	+			205					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.614A>G	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.877169	0.91664	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.71934	-0.58;-0.6;-0.61	5.68	5.68	0.88126	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94133	0.7390	10	0.87932	D	0	-25.822	15.9286	0.79644	1.0:0.0:0.0:0.0	.	205	Q9H0D6	XRN2_HUMAN	G	205;129;151	ENSP00000366396:E205G;ENSP00000413548:E129G;ENSP00000441113:E151G	ENSP00000366396:E205G	E	+	2	0	XRN2	21260236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.072000	0.93986	2.151000	0.67156	0.533000	0.62120	GAA		0.289	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		16	36	0	0	0	0.004990	0	16	36				
PCGF5	84333	broad.mit.edu	37	10	93038049	93038049	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr10:93038049T>G	ENST00000336126.5	+	10	979	c.747T>G	c.(745-747)taT>taG	p.Y249*	PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Y249*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						TACTGCAGTATCGACCAAGAA	0.358																																					Colon(178;732 2696 46441 50370)	ENST00000336126.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						c.(745-747)taT>taG		polycomb group ring finger 5							123.0	113.0	116.0					10																	93038049		2203	4300	6503	SO:0001587	stop_gained	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93038049T>G	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.747T>G	10.37:g.93038049T>G	ENSP00000337500:p.Tyr249*					PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Y249*	p.Y249*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN			10	979	+			249					B7Z892|D3DR33|Q6PK47|Q86TD0	Nonsense_Mutation	SNP	ENST00000336126.5	37	c.747T>G	CCDS7413.1	.	.	.	.	.	.	.	.	.	.	T	36	5.753028	0.96890	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	.	.	.	6.07	3.75	0.43078	.	0.119962	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.4019	10.384	0.44129	0.0:0.1316:0.0:0.8684	.	.	.	.	X	249	.	ENSP00000337500:Y249X	Y	+	3	2	PCGF5	93028029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.701000	0.37825	0.537000	0.28751	0.533000	0.62120	TAT		0.358	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		4	24	0	0	0	0.009096	0	4	24				
VENTX	27287	broad.mit.edu	37	10	135053283	135053283	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr10:135053283C>G	ENST00000325980.9	+	2	856	c.345C>G	c.(343-345)taC>taG	p.Y115*		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	115					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		ACCACCAGTACCTGAGCCCTC	0.662																																						ENST00000325980.9																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14						c.(343-345)taC>taG		VENT homeobox							30.0	31.0	31.0					10																	135053283		2202	4294	6496	SO:0001587	stop_gained	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135053283C>G	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.345C>G	10.37:g.135053283C>G	ENSP00000357556:p.Tyr115*						p.Y115*	NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	2	856	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	115					Q32MZ3	Nonsense_Mutation	SNP	ENST00000325980.9	37	c.345C>G	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978724	0.92982	.	.	ENSG00000151650	ENST00000325980	.	.	.	2.57	1.64	0.23874	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1792	0.15150	0.0:0.8252:0.0:0.1748	.	.	.	.	X	115	.	ENSP00000357556:Y115X	Y	+	3	2	VENTX	134903273	1.000000	0.71417	0.244000	0.24202	0.621000	0.37620	0.854000	0.27791	0.421000	0.25980	0.542000	0.68232	TAC		0.662	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		27	33	0	0	0	0.006320	0	27	33				
C16orf71	146562	broad.mit.edu	37	16	4793097	4793097	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:4793097A>C	ENST00000299320.5	+	5	1315	c.837A>C	c.(835-837)gaA>gaC	p.E279D	C16orf71_ENST00000590191.1_Missense_Mutation_p.E293D|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	279										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGGGACAAGAAGACAACCAGG	0.527																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(835-837)gaA>gaC		chromosome 16 open reading frame 71							166.0	141.0	149.0					16																	4793097		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4793097A>C	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.837A>C	16.37:g.4793097A>C	ENSP00000299320:p.Glu279Asp					C16orf71_ENST00000590191.1_Missense_Mutation_p.E293D|RP11-127I20.7_ENST00000588099.1_RNA	p.E279D	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			5	1315	+			279					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.837A>C	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108322	0.56291	.	.	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.17213	2.29	4.65	0.848	0.18966	.	0.168881	0.28425	N	0.015399	T	0.22589	0.0545	L	0.52573	1.65	0.09310	N	1	D	0.64830	0.994	P	0.58013	0.831	T	0.07520	-1.0768	10	0.59425	D	0.04	-16.3339	3.5008	0.07672	0.5603:0.199:0.2407:0.0	.	279	Q8IYS4	CP071_HUMAN	D	279;34	ENSP00000299320:E279D	ENSP00000299320:E279D	E	+	3	2	C16orf71	4733098	0.063000	0.20901	0.002000	0.10522	0.840000	0.47671	0.113000	0.15499	0.028000	0.15324	0.524000	0.50904	GAA		0.527	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		28	52	0	0	0	0.006320	0	28	52				
HLA-F	3134	broad.mit.edu	37	6	29692932	29692932	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:29692932G>C	ENST00000376861.1	+	5	1119	c.735G>C	c.(733-735)caG>caC	p.Q245H	HLA-F_ENST00000259951.7_Missense_Mutation_p.Q245H|HLA-F_ENST00000334668.4_Missense_Mutation_p.Q245H|HLA-F_ENST00000440587.2_Missense_Mutation_p.Q127H|HLA-F_ENST00000434407.2_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	245	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGAGGAACAGACCCAGGACA	0.627																																						ENST00000440587.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(379-381)caG>caC		major histocompatibility complex, class I, F							58.0	49.0	52.0					6																	29692932		2203	4300	6503	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29692932G>C	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.735G>C	6.37:g.29692932G>C	ENSP00000366057:p.Gln245His					HLA-F_ENST00000259951.7_Missense_Mutation_p.Q245H|HLA-F_ENST00000334668.4_Missense_Mutation_p.Q245H|HLA-F_ENST00000434407.2_Intron|HLA-F_ENST00000376861.1_Missense_Mutation_p.Q245H	p.Q127H			P30511	HLAF_HUMAN			4	740	+			245			Alpha-2.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.381G>C	CCDS43438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.07|12.07	1.826694|1.826694	0.32329|0.32329	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000440587|ENST00000429294	T;T;T;T|.	0.02812|.	4.15;4.15;4.15;4.15|.	1.92|1.92	1.92|1.92	0.25849|0.25849	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);|.	0.882556|.	0.09340|.	U|.	0.815633|.	T|T	0.29321|0.29321	0.0730|0.0730	M|M	0.68593|0.68593	2.085|2.085	0.19300|0.19300	N|N	0.999974|0.999974	D;P;D|.	0.76494|.	0.999;0.928;0.97|.	D;B;P|.	0.87578|.	0.998;0.22;0.72|.	T|T	0.15780|0.15780	-1.0425|-1.0425	10|5	0.87932|.	D|.	0|.	.|.	7.2321|7.2321	0.26049|0.26049	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	245;245;245|.	A8MVU7;P30511;P30511-3|.	.;HLAF_HUMAN;.|.	H|T	245;222;245;245;159;127|124	ENSP00000366057:Q245H;ENSP00000334263:Q245H;ENSP00000259951:Q245H;ENSP00000404130:Q127H|.	ENSP00000259951:Q245H|.	Q|R	+|+	3|2	2|0	HLA-F|HLA-F	29800911|29800911	0.000000|0.000000	0.05858|0.05858	0.836000|0.836000	0.33094|0.33094	0.225000|0.225000	0.24961|0.24961	0.334000|0.334000	0.19787|0.19787	1.046000|1.046000	0.40249|0.40249	0.436000|0.436000	0.28706|0.28706	CAG|AGA		0.627	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		14	44	0	0	0	0.020292	0	14	44				
KYNU	8942	broad.mit.edu	37	2	143712382	143712382	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr2:143712382C>G	ENST00000264170.4	+	5	635	c.377C>G	c.(376-378)gCc>gGc	p.A126G	KYNU_ENST00000375773.2_Missense_Mutation_p.A126G|KYNU_ENST00000409512.1_Missense_Mutation_p.A126G	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTTACAGGAGCCAATGAGAAA	0.299																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(376-378)gCc>gGc		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						97.0	103.0	101.0					2																	143712382		2203	4298	6501	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143712382C>G	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.377C>G	2.37:g.143712382C>G	ENSP00000264170:p.Ala126Gly					KYNU_ENST00000409512.1_Missense_Mutation_p.A126G|KYNU_ENST00000375773.2_Missense_Mutation_p.A126G	p.A126G	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	5	635	+			126						Missense_Mutation	SNP	ENST00000264170.4	37	c.377C>G	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027425	0.93518	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.60672	0.17;0.17;0.17	5.76	5.76	0.90799	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	T	0.79551	0.4465	M	0.82630	2.6	0.80722	D	1	P;D	0.89917	0.953;1.0	P;D	0.80764	0.854;0.994	T	0.79862	-0.1624	10	0.56958	D	0.05	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	126;126	Q16719;Q9BVW3	KYNU_HUMAN;.	G	126	ENSP00000264170:A126G;ENSP00000364928:A126G;ENSP00000386731:A126G	ENSP00000264170:A126G	A	+	2	0	KYNU	143428852	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.123000	0.77176	2.880000	0.98712	0.650000	0.86243	GCC		0.299	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		3	28	0	0	0	0.004672	0	3	28				
ANKS3	124401	broad.mit.edu	37	16	4774826	4774826	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr16:4774826C>T	ENST00000304283.4	-	6	792	c.498G>A	c.(496-498)ccG>ccA	p.P166P	ANKS3_ENST00000592711.1_Silent_p.P59P|ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000585773.1_Silent_p.P93P|ANKS3_ENST00000446014.2_Silent_p.P37P	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	166										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ATCCACATATCGGCTCCCTGC	0.488																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(496-498)ccG>ccA		ankyrin repeat and sterile alpha motif domain containing 3							66.0	58.0	61.0					16																	4774826		2197	4300	6497	SO:0001819	synonymous_variant	124401							g.chr16:4774826C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.498G>A	16.37:g.4774826C>T						ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000585773.1_Silent_p.P93P|ANKS3_ENST00000592711.1_Silent_p.P59P|ANKS3_ENST00000446014.2_Silent_p.P37P	p.P166P	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			6	792	-			166					B4DWU4|D3DUE2|Q8TF25	Silent	SNP	ENST00000304283.4	37	c.498G>A	CCDS10520.1																																																																																				0.488	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		6	16	0	0	0	0.001984	0	6	16				
PAQR8	85315	broad.mit.edu	37	6	52268767	52268767	+	Silent	SNP	C	C	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr6:52268767C>A	ENST00000442253.2	+	2	930	c.756C>A	c.(754-756)atC>atA	p.I252I	PAQR8_ENST00000360726.3_Silent_p.I252I	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	252					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCCTCCAGATCCTCTTCTTCC	0.577																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(754-756)atC>atA		progestin and adipoQ receptor family member VIII							114.0	104.0	107.0					6																	52268767		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268767C>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.756C>A	6.37:g.52268767C>A						PAQR8_ENST00000360726.3_Silent_p.I252I	p.I252I	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	930	+	Lung NSC(77;0.0875)		252					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.756C>A	CCDS4941.1																																																																																				0.577	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		17	50	1	0	2.23348e-06	0.028581	2.44963e-06	17	50				
LYST	1130	broad.mit.edu	37	1	235952058	235952058	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:235952058G>T	ENST00000389794.3	-	13	4805	c.4631C>A	c.(4630-4632)tCc>tAc	p.S1544Y	LYST_ENST00000389793.2_Missense_Mutation_p.S1544Y|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1544					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAACGCTTTGGATCCCAGTGA	0.403																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4630-4632)tCc>tAc		lysosomal trafficking regulator							101.0	88.0	92.0					1																	235952058		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235952058G>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4631C>A	1.37:g.235952058G>T	ENSP00000374444:p.Ser1544Tyr					LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.S1544Y	p.S1544Y			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		13	4805	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1544					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4631C>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691916	0.88735	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.64085	-0.08;-0.08	5.4	5.4	0.78164	.	4.711450	0.00166	N	0.000001	D	0.83092	0.5179	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65483	-0.6157	10	0.87932	D	0	.	17.3508	0.87323	0.0:0.0:1.0:0.0	.	1544	Q99698	LYST_HUMAN	Y	1544	ENSP00000374444:S1544Y;ENSP00000374443:S1544Y	ENSP00000374443:S1544Y	S	-	2	0	LYST	234018681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.763000	0.91715	2.528000	0.85240	0.563000	0.77884	TCC		0.403	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			9	29	1	0	1.12685e-05	0.004482	1.21628e-05	9	29				
CSTF2	1478	broad.mit.edu	37	X	100078983	100078983	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:100078983G>A	ENST00000372972.2	+	5	569	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Missense_Mutation_p.E185K	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	185	Interactions with CSTF3 and SYMPK.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TGTGGATCCGGAAATTGCCCT	0.468																																						ENST00000415585.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(553-555)Gaa>Aaa		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							177.0	153.0	161.0					X																	100078983		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100078983G>A	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.553G>A	X.37:g.100078983G>A	ENSP00000362063:p.Glu185Lys					CSTF2_ENST00000372972.2_Missense_Mutation_p.E185K|CSTF2_ENST00000486615.1_Intron	p.E185K			P33240	CSTF2_HUMAN			5	575	+			185			Interactions with CSTF3 and SYMPK.		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.553G>A	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917881	0.92249	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	T;T;T	0.14893	2.59;2.59;2.47	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.18257	0.0438	L	0.41573	1.285	0.80722	D	1	B;B;B	0.14012	0.009;0.007;0.009	B;B;B	0.21360	0.034;0.011;0.02	T	0.02639	-1.1130	10	0.33940	T	0.23	-11.541	18.0432	0.89324	0.0:0.0:1.0:0.0	.	185;185;185	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	K	185;185;185;176	ENSP00000387996:E185K;ENSP00000362063:E185K;ENSP00000415705:E176K	ENSP00000362063:E185K	E	+	1	0	CSTF2	99965639	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.158000	0.94723	2.196000	0.70406	0.600000	0.82982	GAA		0.468	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		23	45	0	0	0	0.014323	0	23	45				
SLC35B4	84912	broad.mit.edu	37	7	133979789	133979789	+	Silent	SNP	G	G	A	rs559524155	byFrequency	TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr7:133979789G>A	ENST00000378509.4	-	10	1091	c.792C>T	c.(790-792)tgC>tgT	p.C264C	SLC35B4_ENST00000466599.1_Intron	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	264					carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						TGAGGGAGGCGCATTCTGTGG	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		19270	0.0		0.0	False		,,,				2504	0.002					ENST00000378509.4																			0				large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						c.(790-792)tgC>tgT		solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4							186.0	172.0	176.0					7																	133979789		2203	4300	6503	SO:0001819	synonymous_variant	84912					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity	g.chr7:133979789G>A	AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"""Solute carriers"""	20584	protein-coding gene	gene with protein product		610923	"""solute carrier family 35, member B4"""				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.792C>T	7.37:g.133979789G>A						SLC35B4_ENST00000466599.1_Intron	p.C264C	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN			10	1091	-			264					A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Silent	SNP	ENST00000378509.4	37	c.792C>T	CCDS34756.1																																																																																				0.537	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	NM_032826		7	377	0	0	0	0.001984	0	7	377				
SACS	26278	broad.mit.edu	37	13	23942586	23942586	+	Silent	SNP	G	G	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr13:23942586G>C	ENST00000382292.3	-	4	573	c.300C>G	c.(298-300)ctC>ctG	p.L100L	SACS_ENST00000382298.3_Silent_p.L100L|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	100					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAATGTCCTTGAGAAAATCAA	0.373																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(298-300)ctC>ctG		spastic ataxia of Charlevoix-Saguenay (sacsin)							91.0	81.0	84.0					13																	23942586		1568	3582	5150	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23942586G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.300C>G	13.37:g.23942586G>C						SACS_ENST00000382292.3_Silent_p.L100L|SACS_ENST00000402364.1_5'UTR	p.L100L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	5	888	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	100					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.300C>G	CCDS9300.2																																																																																				0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		5	13	0	0	0	0.014758	0	5	13				
ADHFE1	137872	broad.mit.edu	37	8	67372555	67372555	+	Missense_Mutation	SNP	G	G	A	rs144952353		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr8:67372555G>A	ENST00000396623.3	+	13	1206	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.R344H	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	392					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.R344H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCCGACACCCGCACTGCCAGG	0.517											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396623.3																			1	Substitution - Missense(1)	p.R344H(1)	large_intestine(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(1174-1176)cGc>cAc		alcohol dehydrogenase, iron containing, 1		A	HIS/ARG	0,4406		0,0,2203	102.0	105.0	104.0		1175	3.0	1.0	8	dbSNP_134	104	2,8598	1.2+/-3.3	0,2,4298	yes	missense	ADHFE1	NM_144650.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	392/468	67372555	2,13004	2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67372555G>A	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1175G>A	8.37:g.67372555G>A	ENSP00000379865:p.Arg392His		OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1099	ADHFE1_ENST00000415254.1_Missense_Mutation_p.R344H|C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000496501.1_3'UTR	p.R392H	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		13	1206	+		Lung NSC(129;0.197)	392					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.1175G>A	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	g	10.81	1.455134	0.26161	0.0	2.33E-4	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.42900	0.96;0.96	5.71	2.99	0.34606	Alcohol dehydrogenase, iron-type (1);	0.210048	0.50627	N	0.000108	T	0.35711	0.0941	L	0.48362	1.52	0.80722	D	1	B	0.16396	0.017	B	0.18561	0.022	T	0.12682	-1.0538	10	0.51188	T	0.08	-11.3411	11.0998	0.48168	0.1995:0.0:0.8005:0.0	.	392	Q8IWW8	HOT_HUMAN	H	392;344	ENSP00000379865:R392H;ENSP00000407115:R344H	ENSP00000379865:R392H	R	+	2	0	ADHFE1	67535109	1.000000	0.71417	0.991000	0.47740	0.011000	0.07611	2.177000	0.42509	0.364000	0.24374	-0.213000	0.12676	CGC		0.517	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		4	155	0	0	0	0.009096	0	4	155				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	58	0	0	0	0.021553	0	5	58				
FUBP1	8880	broad.mit.edu	37	1	78430374	78430374	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:78430374C>T	ENST00000370768.2	-	10	875	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	FUBP1_ENST00000370767.1_Missense_Mutation_p.R265Q|FUBP1_ENST00000436586.2_Missense_Mutation_p.R286Q	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	265					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATACTCATTCCGAACTTCTCT	0.353			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(793-795)cGg>cAg		far upstream element (FUSE) binding protein 1							147.0	146.0	147.0					1																	78430374		2203	4300	6503	SO:0001583	missense	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430374C>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.794G>A	1.37:g.78430374C>T	ENSP00000359804:p.Arg265Gln					FUBP1_ENST00000370768.2_Missense_Mutation_p.R265Q|FUBP1_ENST00000436586.2_Missense_Mutation_p.R286Q	p.R265Q			Q96AE4	FUBP1_HUMAN			10	881	-			265					Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	c.794G>A	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	36	5.701394	0.96812	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.43688	0.94;0.94;0.94	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.49729	0.1574	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.988	T	0.32981	-0.9886	10	0.10111	T	0.7	-13.6822	19.8028	0.96515	0.0:1.0:0.0:0.0	.	286;265	B4DT31;Q96AE4	.;FUBP1_HUMAN	Q	264;265;265;264;286	ENSP00000359803:R265Q;ENSP00000359804:R265Q;ENSP00000389536:R286Q	ENSP00000294623:R264Q	R	-	2	0	FUBP1	78202962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.070000	0.71220	2.678000	0.91216	0.650000	0.86243	CGG		0.353	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		17	57	0	0	0	0.004990	0	17	57				
TBCK	93627	broad.mit.edu	37	4	107016738	107016738	+	Silent	SNP	T	T	G			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:107016738T>G	ENST00000273980.5	-	26	2919	c.2472A>C	c.(2470-2472)gcA>gcC	p.A824A	TBCK_ENST00000432496.2_Silent_p.A824A|TBCK_ENST00000361687.4_Silent_p.A761A|TBCK_ENST00000394706.3_Silent_p.A785A|TBCK_ENST00000394708.2_Silent_p.A824A					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GCTCCCCTTCTGCAGTGAAGG	0.468																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(2470-2472)gcA>gcC		TBC1 domain containing kinase							126.0	111.0	116.0					4																	107016738		2203	4300	6503	SO:0001819	synonymous_variant	93627					intracellular	Rab GTPase activator activity	g.chr4:107016738T>G		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2472A>C	4.37:g.107016738T>G						TBCK_ENST00000432496.2_Silent_p.A824A|TBCK_ENST00000361687.4_Silent_p.A761A|TBCK_ENST00000394708.2_Silent_p.A824A|TBCK_ENST00000394706.3_Silent_p.A785A	p.A824A			Q8TEA7	TBCK_HUMAN			26	2919	-			824			Rhodanese.			Silent	SNP	ENST00000273980.5	37	c.2472A>C	CCDS54788.1																																																																																				0.468	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		11	45	0	0	0	0.016723	0	11	45				
EXT1	2131	broad.mit.edu	37	8	118847731	118847731	+	Silent	SNP	A	A	T			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr8:118847731A>T	ENST00000378204.2	-	3	1922	c.1116T>A	c.(1114-1116)atT>atA	p.I372I		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	372					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGTTCCAATTAATCACTTCAG	0.507			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(1114-1116)atT>atA		exostosin glycosyltransferase 1							122.0	105.0	111.0					8																	118847731		2203	4300	6503	SO:0001819	synonymous_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118847731A>T	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1116T>A	8.37:g.118847731A>T							p.I372I	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		3	1922	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		372					B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	c.1116T>A	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	a	10.66	1.413425	0.25465	.	.	ENSG00000182197	ENST00000436216	.	.	.	5.77	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7567	7.847	0.29431	0.8085:0.0:0.0673:0.1243	.	.	.	.	K	162	.	.	X	-	1	0	EXT1	118916912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.367000	0.44213	1.080000	0.41073	0.533000	0.62120	TAA		0.507	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		4	94	0	0	0	0.014758	0	4	94				
IDE	3416	broad.mit.edu	37	10	94294475	94294475	+	Silent	SNP	T	T	C			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr10:94294475T>C	ENST00000265986.6	-	3	407	c.351A>G	c.(349-351)ggA>ggG	p.G117G		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	117					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	ATTTCTTTGTTCCCAAAAAAA	0.348																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(349-351)ggA>ggG		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						95.0	93.0	94.0					10																	94294475		2203	4300	6503	SO:0001819	synonymous_variant	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94294475T>C	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.351A>G	10.37:g.94294475T>C							p.G117G	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			3	407	-			117					B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	ENST00000265986.6	37	c.351A>G	CCDS7421.1																																																																																				0.348	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		28	36	0	0	0	0.006320	0	28	36				
ATP8B2	57198	broad.mit.edu	37	1	154303375	154303378	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr1:154303375_154303378delACTT	ENST00000368489.3	+	4	274_277	c.274_277delACTT	c.(274-279)acttacfs	p.TY92fs	ATP8B2_ENST00000368487.3_Frame_Shift_Del_p.TY59fs|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Frame_Shift_Del_p.TY78fs	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	78					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTTGCCAACACTTACTTCCTGTT	0.461																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(274-279)acfs		ATPase, aminophospholipid transporter, class I, type 8B, member 2																																				SO:0001589	frameshift_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154303375_154303378delACTT	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.274_277delACTT	1.37:g.154303379_154303382delACTT	ENSP00000357475:p.Thr92fs					ATP8B2_ENST00000368487.3_Frame_Shift_Del_p.TY59fs|ATP8B2_ENST00000341822.2_Frame_Shift_Del_p.TY78fs|ATP8B2_ENST00000426445.1_3'UTR	p.TY92fs	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	274_277	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		78					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Frame_Shift_Del	DEL	ENST00000368489.3	37	c.274_277delACTT	CCDS1066.1																																																																																				0.461	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		7	49						7	49	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187628726	187628732	+	Frame_Shift_Del	DEL	CAGTTTT	CAGTTTT	-			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr4:187628726_187628732delCAGTTTT	ENST00000441802.2	-	2	2459_2465	c.2250_2256delAAAACTG	c.(2248-2256)ggaaaactgfs	p.GKL750fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	750	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGCATAGACCAGTTTTCCATTGAAGC	0.425										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(2248-2256)ggfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628726_187628732delCAGTTTT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2250_2256delAAAACTG	4.37:g.187628726_187628732delCAGTTTT	ENSP00000406229:p.Gly750fs	HNSCC(5;0.00058)					p.GKL750fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	2459_2465	-			750			Cadherin 6.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.2250_2256delAAAACTG	CCDS47177.1																																																																																				0.425	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		58	32						58	32	---	---	---	---
RP11-941H19.3	0	broad.mit.edu	37	8	81213768	81213768	+	lincRNA	DEL	C	C	-			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr8:81213768delC	ENST00000522044.1	+	0	404																											TTTTGGGACGCCCCCCCTCAC	0.542																																						ENST00000522044.1																			0																																																			0							g.chr8:81213768delC																													8.37:g.81213768delC														0	404	+									RNA	DEL	ENST00000522044.1	37																																																																																						0.542	RP11-941H19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000379180.1			13	11						13	11	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100634394	100634396	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr13:100634394_100634396delGCG	ENST00000376335.3	+	1	369_371	c.76_78delGCG	c.(76-78)gcgdel	p.A33del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	33	Poly-Ala.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACTccgccgcggcggcggcgg	0.759																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(76-78)del		Zic family member 2				23,557		6,11,273						-6.2	0.9			3	75,1865		12,51,907	no	coding	ZIC2	NM_007129.3		18,62,1180	A1A1,A1R,RR		3.866,3.9655,3.8889				98,2422				SO:0001651	inframe_deletion	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100634394_100634396delGCG	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.76_78delGCG	13.37:g.100634403_100634405delGCG	ENSP00000365514:p.Ala33del						p.A33del	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	369_371	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		33			Poly-Ala.		Q5VYA9|Q9H309	In_Frame_Del	DEL	ENST00000376335.3	37	c.76_78delGCG	CCDS9495.1																																																																																				0.759	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		2	4						2	4	---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32560503	32560516	+	Frame_Shift_Del	DEL	AGAGAAGTTCAGGC	AGAGAAGTTCAGGC	-	rs369093762		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr14:32560503_32560516delAGAGAAGTTCAGGC	ENST00000345122.3	+	2	943_956	c.628_641delAGAGAAGTTCAGGC	c.(628-642)agagaagttcaggcafs	p.REVQA210fs	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.REVQA210fs|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.REVQA210fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.REVQA210fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	210					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TCATTATCTTAGAGAAGTTCAGGCATTTGCTTCA	0.322																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(628-642)afs		Rho GTPase activating protein 5																																				SO:0001589	frameshift_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560503_32560516delAGAGAAGTTCAGGC	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.628_641delAGAGAAGTTCAGGC	14.37:g.32560503_32560516delAGAGAAGTTCAGGC	ENSP00000371897:p.Arg210fs					ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.REVQA210fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.REVQA210fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.REVQA210fs	p.REVQA210fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	943_956	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		210					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Del	DEL	ENST00000345122.3	37	c.628_641delAGAGAAGTTCAGGC	CCDS32062.1																																																																																				0.322	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		9	58						9	58	---	---	---	---
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs10569304	byFrequency	TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768														2057	0.410743	0.7292	0.219	5008	,	,		12737	0.501		0.2545	False		,,,				2504	0.184					ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(877-882)gtg>gt		transmembrane protein 121				304,182		142,20,81						1.9	1.0		dbSNP_119	2	455,1007		182,91,458	no	coding	TMEM121	NM_025268.2		324,111,539	A1A1,A1R,RR		31.1218,37.4486,38.963				759,1189				SO:0001651	inframe_deletion	80757					integral to membrane		g.chr14:105996050_105996052delGCC		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.879_881delGCC	14.37:g.105996059_105996061delGCC	ENSP00000376304:p.Pro299del					TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	1043_1045	+		Melanoma(154;0.226)	293			Pro-rich.			In_Frame_Del	DEL	ENST00000392519.2	37	c.879_881delGCC	CCDS10006.1																																																																																				0.768	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		4	3						4	3	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578180	7578181	+	Frame_Shift_Ins	INS	-	-	T	rs138983188		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr17:7578180_7578181insT	ENST00000269305.4	-	6	857_858	c.668_669insA	c.(667-669)cctfs	p.P223fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.P223fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P223fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P223fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P223fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P223fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	223	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(12)|p.0?(8)|p.P223P(4)|p.P223L(4)|p.P223H(2)|p.Y220_P223delYEPP(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P223R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACCAGACCTCAGGCGGCTCATA	0.54		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		35	Unknown(12)|Whole gene deletion(8)|Substitution - Missense(7)|Substitution - coding silent(4)|Deletion - In frame(2)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(12)|p.0?(8)|p.P223P(4)|p.P223L(4)|p.P223H(2)|p.Y220_P223delYEPP(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P223R(1)	biliary_tract(5)|endometrium(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(3)|soft_tissue(2)|central_nervous_system(2)|thyroid(1)|urinary_tract(1)|meninges(1)|ovary(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(667-669)cgafs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578180_7578181insT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.668_669insA	17.37:g.7578180_7578181insT	ENSP00000269305:p.Pro223fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Ins_p.R223fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.R223fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R223fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.R223fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.R223fs|TP53_ENST00000574684.1_Intron	p.R223fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	800_801	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	223		P -> A (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.668_669insA	CCDS11118.1																																																																																				0.540	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	20						8	20	---	---	---	---
ANKRD20A5P	440482	broad.mit.edu	37	18	14183628	14183628	+	RNA	DEL	A	A	-			TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr18:14183628delA	ENST00000581935.1	+	0	501							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						ACAGTTTCCTAAAAAGTCCTG	0.378																																						ENST00000581935.1																			0				lung(3)	3															124.0	121.0	122.0					18																	14183628		2203	4300	6503			440482							g.chr18:14183628delA	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14183628delA														0	501	+								Q4G1B6	RNA	DEL	ENST00000581935.1	37																																																																																						0.378	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			19	114						19	114	---	---	---	---
NDUFA6-AS1	100132273	broad.mit.edu	37	22	42537119	42537120	+	RNA	INS	-	-	A	rs142656198|rs540642647|rs68023760|rs55861500	byFrequency	TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chr22:42537119_42537120insA	ENST00000416037.2	+	0	8970				RP4-669P10.16_ENST00000428786.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA	NR_034118.1				NDUFA6 antisense RNA 1 (head to head)																		GGGCTACCACCGGGGCTGATGC	0.614														2230	0.445288	0.202	0.4697	5008	,	,		12179	0.748		0.494	False		,,,				2504	0.3947					ENST00000435101.1																			0				endometrium(1)	1																																														1564							g.chr22:42537119_42537120insA	BC039542		22q13.2	2013-03-18	2013-03-18		ENSG00000237037	ENSG00000237037		"""Long non-coding RNAs"""	45273	non-coding RNA	RNA, long non-coding							Standard	NR_034118		Approved		uc003bcd.1		OTTHUMG00000150917		22.37:g.42537119_42537120insA						CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA								0	296	-									RNA	INS	ENST00000416037.2	37																																																																																						0.614	NDUFA6-AS1-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000320522.4	NR_034118		4	6						4	6	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-BA-7269-01A-11D-2012-08	TCGA-BA-7269-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ffdfc-48f5-41e0-9192-d761f3b518ef	da077b22-a2b5-4b29-bb44-692e5eb09f28	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		3	6						3	6	---	---	---	---
