#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
TUBGCP6	85378	broad.mit.edu	37	22	50682173	50682173	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr22:50682173G>A	ENST00000248846.5	-	1	820	c.716C>T	c.(715-717)gCg>gTg	p.A239V	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.A239V|MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	239					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGAGAGGTCCGCATTGTCTGG	0.542																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(715-717)gCg>gTg		tubulin, gamma complex associated protein 6							43.0	47.0	46.0					22																	50682173		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50682173G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.716C>T	22.37:g.50682173G>A	ENSP00000248846:p.Ala239Val					TUBGCP6_ENST00000248846.5_Missense_Mutation_p.A239V	p.A239V	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1208	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	239					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.716C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012525	0.75161	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.15718	2.78;2.4	3.89	2.87	0.33458	.	0.155218	0.43416	D	0.000575	T	0.23014	0.0556	M	0.65975	2.015	0.35698	D	0.81535	D;D;D	0.64830	0.988;0.977;0.994	P;P;P	0.48654	0.51;0.585;0.543	T	0.31861	-0.9928	10	0.25106	T	0.35	.	11.0151	0.47685	0.0929:0.0:0.9071:0.0	.	239;239;239	A7E2V7;B2RWN4;Q96RT7	.;.;GCP6_HUMAN	V	239	ENSP00000248846:A239V;ENSP00000397387:A239V	ENSP00000248846:A239V	A	-	2	0	TUBGCP6	49024300	1.000000	0.71417	0.578000	0.28575	0.880000	0.50808	4.235000	0.58666	0.851000	0.35264	0.555000	0.69702	GCG		0.542	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		4	74	0	0	0	1	0	4	74				
OBSCN	84033	broad.mit.edu	37	1	228505307	228505307	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:228505307G>T	ENST00000422127.1	+	52	13748	c.13704G>T	c.(13702-13704)caG>caT	p.Q4568H	OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4568H|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q5525H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1687H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q2202H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4568	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACAGGCCAGTGGCGGCTGT	0.677																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(16573-16575)caG>caT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							25.0	32.0	30.0					1																	228505307		2088	4199	6287	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228505307G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13704G>T	1.37:g.228505307G>T	ENSP00000409493:p.Gln4568His					OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4568H|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q4568H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q2202H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1687H	p.Q5525H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			63	16649	+		Prostate(94;0.0405)	4568					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.16575G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	18.97	3.736268	0.69189	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	4.51	1.36	0.22044	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.319953	0.26467	N	0.024203	T	0.40767	0.1130	N	0.25426	0.745	0.27595	N	0.949141	P;P	0.49696	0.927;0.799	P;B	0.49140	0.601;0.371	T	0.22695	-1.0209	10	0.45353	T	0.12	.	5.3295	0.15924	0.3834:0.0:0.6166:0.0	.	4568;4568	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	4568;4568;2202;1687	ENSP00000284548:Q4568H;ENSP00000409493:Q4568H;ENSP00000355668:Q2202H;ENSP00000355670:Q1687H	ENSP00000284548:Q4568H	Q	+	3	2	OBSCN	226571930	0.994000	0.37717	1.000000	0.80357	0.876000	0.50452	0.107000	0.15375	0.546000	0.28920	0.479000	0.44913	CAG		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		21	34	1	0	2.27731e-05	1	2.38161e-05	21	34				
RALGAPA2	57186	broad.mit.edu	37	20	20618015	20618015	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr20:20618015G>A	ENST00000202677.7	-	8	804	c.797C>T	c.(796-798)cCt>cTt	p.P266L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	266					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ACCAAGTACAGGTTTGTAGAT	0.303																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(796-798)cCt>cTt		Ral GTPase activating protein, alpha subunit 2 (catalytic)							36.0	35.0	35.0					20																	20618015		1821	4070	5891	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20618015G>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.797C>T	20.37:g.20618015G>A	ENSP00000202677:p.Pro266Leu						p.P266L	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			8	939	-			266					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.797C>T	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851214	0.91277	.	.	ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161	T;T;T	0.78126	-1.15;-1.15;-1.15	5.51	4.56	0.56223	.	0.146485	0.64402	N	0.000006	T	0.81941	0.4929	M	0.79926	2.475	0.80722	D	1	D	0.52996	0.957	P	0.47251	0.542	D	0.85328	0.1088	10	0.87932	D	0	.	14.5101	0.67780	0.0709:0.0:0.9291:0.0	.	266	Q2PPJ7	RGPA2_HUMAN	L	266;118;118;266	ENSP00000202677:P266L;ENSP00000400901:P118L;ENSP00000412795:P266L	ENSP00000202677:P266L	P	-	2	0	RALGAPA2	20566015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.982000	0.93471	1.457000	0.47850	0.650000	0.86243	CCT		0.303	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		3	15	0	0	0	1	0	3	15				
ARHGAP22	58504	broad.mit.edu	37	10	49667777	49667777	+	Silent	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:49667777C>T	ENST00000249601.4	-	5	905	c.609G>A	c.(607-609)gtG>gtA	p.V203V	ARHGAP22_ENST00000417912.2_Silent_p.V219V|ARHGAP22_ENST00000374170.1_Silent_p.V113V|ARHGAP22_ENST00000417247.2_Silent_p.V113V|ARHGAP22_ENST00000374172.1_Silent_p.V94V|ARHGAP22_ENST00000435790.2_Silent_p.V209V	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	203	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCAGGTCCCTCACCAGGTTGG	0.627																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(607-609)gtG>gtA		Rho GTPase activating protein 22							173.0	155.0	161.0					10																	49667777		2203	4300	6503	SO:0001819	synonymous_variant	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49667777C>T	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.609G>A	10.37:g.49667777C>T						ARHGAP22_ENST00000435790.2_Silent_p.V209V|ARHGAP22_ENST00000374172.1_Silent_p.V94V|ARHGAP22_ENST00000374170.1_Silent_p.V113V|ARHGAP22_ENST00000417912.2_Silent_p.V219V|ARHGAP22_ENST00000417247.2_Silent_p.V113V	p.V203V	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			5	905	-			203			Rho-GAP.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	c.609G>A	CCDS7227.1																																																																																				0.627	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		85	170	0	0	0	1	0	85	170				
CST9L	128821	broad.mit.edu	37	20	23546710	23546710	+	Silent	SNP	A	A	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr20:23546710A>T	ENST00000376979.3	-	2	553	c.255T>A	c.(253-255)acT>acA	p.T85T		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	85						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTGAGAATACAGTCTTGGACT	0.458																																						ENST00000376979.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(253-255)acT>acA		cystatin 9-like							181.0	158.0	166.0					20																	23546710		2203	4300	6503	SO:0001819	synonymous_variant	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23546710A>T		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.255T>A	20.37:g.23546710A>T							p.T85T	NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN			2	553	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		85					B2R5A1	Silent	SNP	ENST00000376979.3	37	c.255T>A	CCDS13157.1																																																																																				0.458	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		45	166	0	0	0	1	0	45	166				
PEX11B	8799	broad.mit.edu	37	1	145522769	145522769	+	Silent	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:145522769C>T	ENST00000369306.3	+	4	779	c.630C>T	c.(628-630)gaC>gaT	p.D210D	ITGA10_ENST00000539363.1_5'Flank|PEX11B_ENST00000537888.1_Silent_p.D196D|ITGA10_ENST00000538811.1_5'Flank|ITGA10_ENST00000369304.3_5'Flank	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	210					peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCTGCTAGACGTGGTCAGAA	0.582																																						ENST00000369306.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(628-630)gaC>gaT		peroxisomal biogenesis factor 11 beta							157.0	138.0	144.0					1																	145522769		2203	4300	6503	SO:0001819	synonymous_variant	8799				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding	g.chr1:145522769C>T	AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.630C>T	1.37:g.145522769C>T						PEX11B_ENST00000537888.1_Silent_p.D196D	p.D210D	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN			4	779	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		210					B3KN85|B4DXH9|Q96ET2	Silent	SNP	ENST00000369306.3	37	c.630C>T	CCDS917.1																																																																																				0.582	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846		45	93	0	0	0	1	0	45	93				
SPATA16	83893	broad.mit.edu	37	3	172674530	172674530	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr3:172674530T>A	ENST00000351008.3	-	6	1201	c.1018A>T	c.(1018-1020)Ata>Tta	p.I340L		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	340					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACTTTTTCTATTTTATCAGCT	0.358																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1018-1020)Ata>Tta		spermatogenesis associated 16							154.0	137.0	142.0					3																	172674530		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172674530T>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1018A>T	3.37:g.172674530T>A	ENSP00000341765:p.Ile340Leu						p.I340L	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		6	1201	-	Ovarian(172;0.00319)|Breast(254;0.197)		340					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1018A>T	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753103	0.49362	.	.	ENSG00000144962	ENST00000351008	T	0.16457	2.34	5.76	3.23	0.37069	.	0.415179	0.25453	N	0.030580	T	0.12092	0.0294	L	0.29908	0.895	0.23933	N	0.996423	B	0.27068	0.167	B	0.23852	0.049	T	0.19160	-1.0314	10	0.62326	D	0.03	-4.6415	8.5311	0.33335	0.0:0.1661:0.0:0.8339	.	340	Q9BXB7	SPT16_HUMAN	L	340	ENSP00000341765:I340L	ENSP00000341765:I340L	I	-	1	0	SPATA16	174157224	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	1.361000	0.34136	0.381000	0.24851	0.533000	0.62120	ATA		0.358	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		14	38	0	0	0	1	0	14	38				
NDUFV3	4731	broad.mit.edu	37	21	44324289	44324289	+	Intron	SNP	C	C	T	rs374566643		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr21:44324289C>T	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Silent_p.H389H|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		AGAATAACCACGGTTTCCATG	0.572													c|||	1	0.000199681	0.0	0.0	5008	,	,		19038	0.0		0.001	False		,,,				2504	0.0					ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(1165-1167)caC>caT		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)	T	,	1,4405	2.1+/-5.4	0,1,2202	58.0	53.0	55.0		,1167	-8.2	0.0	21		55	0,8600	1.2+/-3.3	0,0,4300	no	intron,coding-synonymous	NDUFV3	NM_001001503.1,NM_021075.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,389/474	44324289	1,13005	2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44324289C>T		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-4685C>T	21.37:g.44324289C>T						NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	p.H389H	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	1236	+			0					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Silent	SNP	ENST00000340344.4	37	c.1167C>T	CCDS33573.1																																																																																				0.572	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			8	31	0	0	0	1	0	8	31				
UBAP2	55833	broad.mit.edu	37	9	33956091	33956091	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr9:33956091G>C	ENST00000379238.1	-	11	969	c.852C>G	c.(850-852)atC>atG	p.I284M	UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000539807.1_Missense_Mutation_p.I39M|UBAP2_ENST00000449054.1_Missense_Mutation_p.I284M|UBAP2_ENST00000360802.1_Missense_Mutation_p.I284M|UBAP2_ENST00000418786.2_Missense_Mutation_p.I231M					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GCCCAGGTAAGATGTGATTCT	0.338																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(850-852)atC>atG		ubiquitin associated protein 2							115.0	125.0	122.0					9																	33956091		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33956091G>C	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.852C>G	9.37:g.33956091G>C	ENSP00000368540:p.Ile284Met					UBAP2_ENST00000539807.1_Missense_Mutation_p.I39M|UBAP2_ENST00000418786.2_Missense_Mutation_p.I231M|UBAP2_ENST00000449054.1_Missense_Mutation_p.I284M|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.I284M	p.I284M			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	11	969	-			284						Missense_Mutation	SNP	ENST00000379238.1	37	c.852C>G	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	5.278	0.236664	0.10023	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000539807;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T;T	0.37235	2.39;2.39;2.39;1.81;1.87;1.21	5.2	3.3	0.37823	.	0.311967	0.34603	N	0.003833	T	0.20577	0.0495	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B	0.31077	0.12;0.307;0.002;0.002;0.205;0.251	B;B;B;B;B;B	0.28916	0.096;0.047;0.004;0.004;0.021;0.084	T	0.12243	-1.0555	10	0.38643	T	0.18	-0.0261	7.1407	0.25554	0.1538:0.2868:0.5594:0.0	.	231;209;39;193;209;284	E7EWG4;F5H4D5;F5H2U4;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;UBAP2_HUMAN	M	284;284;284;193;202;39;231;231;138	ENSP00000368540:I284M;ENSP00000416932:I284M;ENSP00000354039:I284M;ENSP00000439329:I39M;ENSP00000404436:I231M;ENSP00000414800:I231M	ENSP00000354039:I284M	I	-	3	3	UBAP2	33946091	0.605000	0.26941	0.001000	0.08648	0.496000	0.33645	1.509000	0.35780	0.545000	0.28902	0.491000	0.48974	ATC		0.338	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		18	187	0	0	0	1	0	18	187				
HPR	3250	broad.mit.edu	37	16	72110962	72110962	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr16:72110962G>T	ENST00000540303.2	+	5	1061	c.1029G>T	c.(1027-1029)aaG>aaT	p.K343N	HPR_ENST00000228226.8_Missense_Mutation_p.K380N|HPR_ENST00000356967.5_Missense_Mutation_p.K343N|HPR_ENST00000561690.1_3'UTR	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	343	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GGGTTCAGAAGACCATAGCTG	0.537																																						ENST00000540303.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20						c.(1027-1029)aaG>aaT		haptoglobin-related protein							181.0	111.0	134.0					16																	72110962		1985	4142	6127	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72110962G>T	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.1029G>T	16.37:g.72110962G>T	ENSP00000441828:p.Lys343Asn					HPR_ENST00000561690.1_3'UTR|HPR_ENST00000228226.8_Missense_Mutation_p.K380N|HPR_ENST00000356967.5_Missense_Mutation_p.K343N	p.K343N	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN			5	1061	+		Ovarian(137;0.125)	343			Peptidase S1.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.1029G>T	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	G	1.311	-0.602072	0.03744	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.92858	-3.12;-3.12;-3.12	2.64	-1.12	0.09808	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.931214	0.09191	N	0.835926	D	0.85826	0.5787	L	0.37800	1.135	0.09310	N	1	B	0.29835	0.258	B	0.32624	0.149	T	0.75932	-0.3143	10	0.66056	D	0.02	.	4.0214	0.09667	0.2974:0.0:0.4952:0.2073	.	343	P00739	HPTR_HUMAN	N	343;343;380	ENSP00000349451:K343N;ENSP00000441828:K343N;ENSP00000228226:K380N	ENSP00000228226:K380N	K	+	3	2	HP	70668463	0.019000	0.18553	0.290000	0.24890	0.024000	0.10985	-0.019000	0.12546	-0.101000	0.12219	-1.465000	0.01017	AAG		0.537	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		9	60	1	0	0.000673444	1	0.000688521	9	60				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	58	0	0	0	1	0	4	58				
FMN2	56776	broad.mit.edu	37	1	240601385	240601385	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:240601385C>G	ENST00000319653.9	+	16	5165	c.4935C>G	c.(4933-4935)ttC>ttG	p.F1645L	FMN2_ENST00000545751.1_Missense_Mutation_p.F241L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1645	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGCATATTTCTTCATGAAAC	0.383																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4933-4935)ttC>ttG		formin 2							135.0	133.0	134.0					1																	240601385		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240601385C>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4935C>G	1.37:g.240601385C>G	ENSP00000318884:p.Phe1645Leu					FMN2_ENST00000545751.1_Missense_Mutation_p.F241L	p.F1645L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		16	5165	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1645			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4935C>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365649	0.82463	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.21734	1.99;1.99	6.0	6.0	0.97389	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.088901	0.47852	D	0.000202	T	0.48466	0.1501	M	0.81802	2.56	0.80722	D	1	D;P;D	0.76494	0.999;0.919;0.983	D;P;D	0.79108	0.992;0.749;0.948	T	0.47195	-0.9136	10	0.66056	D	0.02	.	13.6651	0.62389	0.0:0.9298:0.0:0.0702	.	241;274;1645	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	L	1645;241;272;121	ENSP00000318884:F1645L;ENSP00000437918:F241L	ENSP00000318884:F1645L	F	+	3	2	FMN2	238668008	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	4.582000	0.60957	2.856000	0.98102	0.643000	0.83706	TTC		0.383	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		37	90	0	0	0	1	0	37	90				
NRXN1	9378	broad.mit.edu	37	2	50280430	50280430	+	Silent	SNP	C	C	G	rs183440866	byFrequency	TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr2:50280430C>G	ENST00000406316.2	-	20	5493	c.4017G>C	c.(4015-4017)ccG>ccC	p.P1339P	NRXN1_ENST00000401669.2_Silent_p.P1369P|NRXN1_ENST00000405472.3_Silent_p.P1361P|NRXN1_ENST00000404971.1_Silent_p.P1409P|NRXN1_ENST00000402717.3_Silent_p.P1361P|NRXN1_ENST00000342183.5_Silent_p.P304P|NRXN1_ENST00000406859.3_Silent_p.P1339P|NRXN1_ENST00000401710.1_Silent_p.P357P	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1339					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTTCTTTTGTCGGGGGCTTTC	0.453																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(4225-4227)ccG>ccC		neurexin 1							103.0	113.0	110.0					2																	50280430		2203	4300	6503	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50280430C>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4017G>C	2.37:g.50280430C>G						NRXN1_ENST00000342183.5_Silent_p.P304P|NRXN1_ENST00000406316.2_Silent_p.P1339P|NRXN1_ENST00000401669.2_Silent_p.P1369P|NRXN1_ENST00000402717.3_Silent_p.P1361P|NRXN1_ENST00000401710.1_Silent_p.P357P|NRXN1_ENST00000406859.3_Silent_p.P1339P|NRXN1_ENST00000405472.3_Silent_p.P1361P	p.P1409P	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		22	5566	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1339			Poly-Ala.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.4227G>C	CCDS54360.1																																																																																				0.453	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			32	83	0	0	0	1	0	32	83				
SYT16	83851	broad.mit.edu	37	14	62551060	62551060	+	Silent	SNP	C	C	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr14:62551060C>A	ENST00000430451.2	+	5	1778	c.1581C>A	c.(1579-1581)atC>atA	p.I527I		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	527	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGAAATGATCAAAGGCAGCC	0.547																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1579-1581)atC>atA		synaptotagmin XVI							62.0	61.0	62.0					14																	62551060		1967	4145	6112	SO:0001819	synonymous_variant	83851							g.chr14:62551060C>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1581C>A	14.37:g.62551060C>A							p.I527I	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	5	1778	+			527			C2 2.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	c.1581C>A	CCDS45121.1																																																																																				0.547	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		18	35	1	0	3.52763e-06	1	3.71758e-06	18	35				
MNX1	3110	broad.mit.edu	37	7	156798412	156798412	+	Silent	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:156798412C>T	ENST00000252971.6	-	3	1308	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	MNX1_ENST00000543409.1_Silent_p.P124P|MNX1-AS2_ENST00000429228.1_RNA|MNX1_ENST00000469500.1_Intron	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	336					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGCGCTGGCGGCCCCAGCA	0.731																																						ENST00000252971.6																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(1006-1008)ccG>ccA		motor neuron and pancreas homeobox 1							25.0	16.0	19.0					7																	156798412		2092	4133	6225	SO:0001819	synonymous_variant	3110				humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156798412C>T	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.1008G>A	7.37:g.156798412C>T						MNX1_ENST00000543409.1_Silent_p.P124P|MNX1_ENST00000469500.1_Intron	p.P336P	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1308	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	336					F5H401|Q9Y648	Silent	SNP	ENST00000252971.6	37	c.1008G>A	CCDS34788.1																																																																																				0.731	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			3	22	0	0	0	1	0	3	22				
IGHV3-49	28423	broad.mit.edu	37	14	107013323	107013323	+	RNA	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr14:107013323C>T	ENST00000390625.2	-	0	126									immunoglobulin heavy variable 3-49																		TCCCCTCACACTCAGTATCTC	0.463																																						ENST00000390625.2																			0																				135.0	132.0	133.0					14																	107013323		1953	4140	6093			28423							g.chr14:107013323C>T	M99676		14q32.33	2012-02-08			ENSG00000211965	ENSG00000211965		"""Immunoglobulins / IGH locus"""	5607	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151967		14.37:g.107013323C>T														0	126	-									RNA	SNP	ENST00000390625.2	37																																																																																						0.463	IGHV3-49-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324613.1	NG_001019		21	88	0	0	0	1	0	21	88				
PREX2	80243	broad.mit.edu	37	8	68864658	68864658	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr8:68864658G>A	ENST00000288368.4	+	1	306	c.29G>A	c.(28-30)cGc>cAc	p.R10H	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	10					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAGACAGCCGCGCCGAGAGC	0.736																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(28-30)cGc>cAc		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							17.0	18.0	18.0					8																	68864658		2186	4281	6467	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68864658G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.29G>A	8.37:g.68864658G>A	ENSP00000288368:p.Arg10His					PREX2_ENST00000529398.1_3'UTR	p.R10H	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			1	306	+			10					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.29G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185472	0.57909	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.68331	-0.32	4.48	3.36	0.38483	Dbl homology (DH) domain (1);	0.085766	0.41396	D	0.000883	T	0.65863	0.2732	N	0.22421	0.69	0.35155	D	0.770154	D;P;P;D	0.76494	0.992;0.474;0.856;0.999	P;B;P;D	0.68765	0.752;0.064;0.467;0.96	T	0.72510	-0.4271	10	0.52906	T	0.07	.	8.373	0.32425	0.2057:0.0:0.7943:0.0	.	10;10;10;10	Q70Z35-2;Q70Z35;Q70Z35-3;F8WD63	.;PREX2_HUMAN;.;.	H	10	ENSP00000288368:R10H	ENSP00000288368:R10H	R	+	2	0	PREX2	69027212	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.626000	0.54245	2.038000	0.60285	0.484000	0.47621	CGC		0.736	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		10	7	0	0	0	1	0	10	7				
TNFAIP1	7126	broad.mit.edu	37	17	26671444	26671444	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:26671444G>A	ENST00000226225.2	+	7	1036	c.769G>A	c.(769-771)Gag>Aag	p.E257K	TNFAIP1_ENST00000583213.1_3'UTR|POLDIP2_ENST00000003607.4_5'Flank|TNFAIP1_ENST00000544907.2_Missense_Mutation_p.E153K	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	257					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCTACTCTATGAGACTCCCCG	0.562																																						ENST00000226225.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12						c.(769-771)Gag>Aag		tumor necrosis factor, alpha-induced protein 1 (endothelial)							57.0	49.0	52.0					17																	26671444		2203	4300	6503	SO:0001583	missense	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26671444G>A		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.769G>A	17.37:g.26671444G>A	ENSP00000226225:p.Glu257Lys					TNFAIP1_ENST00000544907.2_Missense_Mutation_p.E153K|TNFAIP1_ENST00000583213.1_3'UTR	p.E257K	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	7	1036	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		257					B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	c.769G>A	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504539	0.96371	.	.	ENSG00000109079	ENST00000226225;ENST00000544907	T	0.59772	0.24	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.85630	2.765	0.80722	D	1	D	0.69078	0.997	P	0.61940	0.896	T	0.80596	-0.1312	10	0.87932	D	0	-31.5986	18.891	0.92403	0.0:0.0:1.0:0.0	.	257	Q13829	BACD2_HUMAN	K	257;153	ENSP00000226225:E257K	ENSP00000226225:E257K	E	+	1	0	TNFAIP1	23695571	1.000000	0.71417	0.984000	0.44739	0.527000	0.34593	9.564000	0.98151	2.941000	0.99782	0.655000	0.94253	GAG		0.562	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		22	49	0	0	0	1	0	22	49				
OR13G1	441933	broad.mit.edu	37	1	247835454	247835454	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:247835454C>T	ENST00000359688.2	-	1	911	c.890G>A	c.(889-891)gGa>gAa	p.G297E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTCCTAATTCCTGCCTGCAT	0.423																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(889-891)gGa>gAa		olfactory receptor, family 13, subfamily G, member 1							107.0	115.0	112.0					1																	247835454		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835454C>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.890G>A	1.37:g.247835454C>T	ENSP00000352717:p.Gly297Glu					RP11-634B7.4_ENST00000449298.1_RNA	p.G297E	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	911	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		297					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.890G>A	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	5.287	0.238375	0.10023	.	.	ENSG00000197437	ENST00000359688	T	0.36699	1.24	4.33	1.23	0.21249	.	0.169263	0.28114	N	0.016541	T	0.28499	0.0705	L	0.34521	1.04	0.09310	N	1	B	0.21225	0.053	B	0.26202	0.067	T	0.32824	-0.9892	10	0.87932	D	0	-23.7466	12.1237	0.53905	0.0:0.4836:0.5164:0.0	.	297	Q8NGZ3	O13G1_HUMAN	E	297	ENSP00000352717:G297E	ENSP00000352717:G297E	G	-	2	0	OR13G1	245902077	0.012000	0.17670	0.002000	0.10522	0.030000	0.12068	0.400000	0.20932	0.152000	0.19188	0.655000	0.94253	GGA		0.423	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		26	55	0	0	0	1	0	26	55				
RHOBTB1	9886	broad.mit.edu	37	10	62647983	62647983	+	Silent	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:62647983C>T	ENST00000337910.5	-	6	1780	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	RHOBTB1_ENST00000357917.4_Silent_p.K481K	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	481					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGAACGTTCCCTTGCTGAGAC	0.473																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1441-1443)aaG>aaA		Rho-related BTB domain containing 1							86.0	81.0	83.0					10																	62647983		2203	4300	6503	SO:0001819	synonymous_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62647983C>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1443G>A	10.37:g.62647983C>T						RHOBTB1_ENST00000357917.4_Silent_p.K481K	p.K481K	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			6	1780	-	Prostate(12;0.0112)		481						Silent	SNP	ENST00000337910.5	37	c.1443G>A	CCDS7261.1																																																																																				0.473	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			3	35	0	0	0	1	0	3	35				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	4	0	0	0	1	0	3	4				
PDIA4	9601	broad.mit.edu	37	7	148703001	148703001	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:148703001C>A	ENST00000286091.4	-	8	1508	c.1276G>T	c.(1276-1278)Gat>Tat	p.D426Y		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	426					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GCTCTGTAATCAAAGCTGAAG	0.627											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1276-1278)Gat>Tat		protein disulfide isomerase family A, member 4							43.0	47.0	46.0					7																	148703001		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148703001C>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1276G>T	7.37:g.148703001C>A	ENSP00000286091:p.Asp426Tyr		OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719		p.D426Y	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		8	1508	-	Melanoma(164;0.15)		426					A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1276G>T	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684393	0.88639	.	.	ENSG00000155660	ENST00000286091	T	0.14640	2.49	5.11	5.11	0.69529	Thioredoxin-like fold (1);	0.091418	0.64402	D	0.000001	T	0.42944	0.1225	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.48352	-0.9043	10	0.87932	D	0	.	18.5453	0.91044	0.0:1.0:0.0:0.0	.	426	P13667	PDIA4_HUMAN	Y	426	ENSP00000286091:D426Y	ENSP00000286091:D426Y	D	-	1	0	PDIA4	148333934	1.000000	0.71417	0.975000	0.42487	0.917000	0.54804	7.534000	0.82004	2.376000	0.81061	0.561000	0.74099	GAT		0.627	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		18	20	1	0	3.32936e-07	1	3.56345e-07	18	20				
KIF13A	63971	broad.mit.edu	37	6	17764436	17764436	+	Missense_Mutation	SNP	C	C	T	rs370748706		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr6:17764436C>T	ENST00000259711.6	-	39	5428	c.5323G>A	c.(5323-5325)Gat>Aat	p.D1775N	KIF13A_ENST00000378814.5_Missense_Mutation_p.D1727N|KIF13A_ENST00000378826.2_Missense_Mutation_p.D1740N|KIF13A_ENST00000378843.2_Missense_Mutation_p.D1727N|KIF13A_ENST00000378816.5_Missense_Mutation_p.D1740N	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1775					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGGAGCCCATCGGAGACAGTC	0.483																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(5179-5181)Gat>Aat		kinesin family member 13A		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	1,3817		0,1,1908	55.0	57.0	56.0		5218,5179,5179,5323	4.0	0.0	6		56	0,8240		0,0,4120	no	missense,missense,missense,missense	KIF13A	NM_001105566.2,NM_001105567.2,NM_001105568.2,NM_022113.5	23,23,23,23	0,1,6028	TT,TC,CC		0.0,0.0262,0.0083	benign,benign,benign,benign	1740/1771,1727/1758,1727/1750,1775/1806	17764436	1,12057	1909	4120	6029	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17764436C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.5323G>A	6.37:g.17764436C>T	ENSP00000259711:p.Asp1775Asn					KIF13A_ENST00000259711.6_Missense_Mutation_p.D1775N|KIF13A_ENST00000378816.5_Missense_Mutation_p.D1740N|KIF13A_ENST00000378843.2_Missense_Mutation_p.D1727N|KIF13A_ENST00000378826.2_Missense_Mutation_p.D1740N	p.D1727N	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		37	5178	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1775					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.5179G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403262	0.42613	2.62E-4	0.0	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.78	3.95	0.45737	.	1.013950	0.07870	N	0.967663	T	0.14227	0.0344	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.17268	0.021;0.021;0.012;0.021	B;B;B;B	0.17722	0.019;0.008;0.009;0.016	T	0.34976	-0.9807	10	0.41790	T	0.15	.	10.4375	0.44443	0.0:0.5442:0.3881:0.0676	.	1727;1740;1775;1727	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	N	1727;779;1775;1740;1727;1740	ENSP00000368091:D1727N;ENSP00000425616:D779N;ENSP00000259711:D1775N;ENSP00000368103:D1740N;ENSP00000368120:D1727N;ENSP00000368093:D1740N	ENSP00000259711:D1775N	D	-	1	0	KIF13A	17872415	0.002000	0.14202	0.001000	0.08648	0.092000	0.18411	0.842000	0.27627	0.863000	0.35553	0.591000	0.81541	GAT		0.483	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			9	25	0	0	0	1	0	9	25				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	284802							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	80	0	0	0	1	0	7	80				
XPNPEP2	7512	broad.mit.edu	37	X	128879212	128879212	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chrX:128879212G>A	ENST00000371106.3	+	4	460	c.268G>A	c.(268-270)Gcg>Acg	p.A90T	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.A90T	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	90						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CGAGAGGCGTGCGTGGATTAC	0.493																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(268-270)Gcg>Acg		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							319.0	197.0	238.0					X																	128879212		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128879212G>A	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.268G>A	X.37:g.128879212G>A	ENSP00000360147:p.Ala90Thr					XPNPEP2_ENST00000371105.3_Missense_Mutation_p.A90T	p.A90T	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			4	460	+			90					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.268G>A	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	G	9.330	1.060332	0.19987	.	.	ENSG00000122121	ENST00000371105;ENST00000371106	T	0.74737	-0.87	5.45	1.47	0.22746	Creatinase (1);	0.696010	0.14919	N	0.290780	T	0.68613	0.3020	M	0.78285	2.405	0.20196	N	0.99992	B;B	0.27951	0.195;0.019	B;B	0.27608	0.081;0.023	T	0.60722	-0.7207	10	0.45353	T	0.12	-22.4766	3.4629	0.07539	0.091:0.1388:0.4837:0.2865	.	90;90	B4DV70;O43895	.;XPP2_HUMAN	T	90	ENSP00000360147:A90T	ENSP00000360146:A90T	A	+	1	0	XPNPEP2	128706893	0.987000	0.35691	0.573000	0.28510	0.010000	0.07245	2.329000	0.43876	0.489000	0.27749	-0.222000	0.12452	GCG		0.493	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		18	20	0	0	0	1	0	18	20				
ENPP1	5167	broad.mit.edu	37	6	132206202	132206202	+	Splice_Site	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr6:132206202C>T	ENST00000360971.2	+	23	2463	c.2443C>T	c.(2443-2445)Caa>Taa	p.Q815*		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	815	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GAATCTGAGGCAGTAAGAACA	0.378																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.e23+1		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						163.0	147.0	152.0					6																	132206202		2203	4300	6503	SO:0001630	splice_region_variant	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132206202C>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2444+1C>T	6.37:g.132206202C>T							p.Q815_splice	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	23	2463	+	Breast(56;0.0505)		815			Nuclease.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Splice_Site	SNP	ENST00000360971.2	37	c.2444_splice	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	37	6.440238	0.97568	.	.	ENSG00000197594	ENST00000360971	.	.	.	5.91	4.04	0.47022	.	1.563110	0.03155	N	0.168499	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-5.9413	14.2549	0.66045	0.572:0.428:0.0:0.0	.	.	.	.	X	815	.	ENSP00000354238:Q815X	Q	+	1	0	ENPP1	132247895	0.687000	0.27671	0.687000	0.30102	0.697000	0.40408	0.301000	0.19174	0.739000	0.32628	0.655000	0.94253	CAA		0.378	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		Nonsense_Mutation	10	18	0	0	0	1	0	10	18				
C19orf26	255057	broad.mit.edu	37	19	1231206	1231206	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr19:1231206C>T	ENST00000382477.2	-	9	1382	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	C19orf26_ENST00000215376.6_Missense_Mutation_p.D344N|C19orf26_ENST00000590083.1_Missense_Mutation_p.D350N			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	370						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGGGCATCCCCCTCCTCC	0.711										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(1048-1050)Gat>Aat		chromosome 19 open reading frame 26							40.0	43.0	42.0					19																	1231206		2202	4295	6497	SO:0001583	missense	255057					integral to membrane		g.chr19:1231206C>T	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.1108G>A	19.37:g.1231206C>T	ENSP00000371917:p.Asp370Asn	HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Missense_Mutation_p.D344N|C19orf26_ENST00000382477.2_Missense_Mutation_p.D370N	p.D350N			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1340	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	370					O43385	Missense_Mutation	SNP	ENST00000382477.2	37	c.1048G>A		.	.	.	.	.	.	.	.	.	.	.	16.49	3.137831	0.56936	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	T;T	0.38240	1.15;1.15	4.46	4.46	0.54185	.	0.098182	0.38164	U	0.001796	T	0.38585	0.1046	L	0.55481	1.735	0.31599	N	0.652987	P	0.44429	0.835	B	0.43728	0.429	T	0.52837	-0.8522	10	0.52906	T	0.07	.	13.949	0.64104	0.0:1.0:0.0:0.0	.	344	Q8N350-2	.	N	370;344	ENSP00000371917:D370N;ENSP00000215376:D344N	ENSP00000215376:D344N	D	-	1	0	C19orf26	1182206	0.309000	0.24518	0.209000	0.23619	0.189000	0.23516	4.998000	0.63927	2.318000	0.78349	0.543000	0.68304	GAT		0.711	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		21	78	0	0	0	1	0	21	78				
ELSPBP1	64100	broad.mit.edu	37	19	48517558	48517558	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr19:48517558G>C	ENST00000339841.2	+	3	379	c.201G>C	c.(199-201)caG>caC	p.Q67H	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	67	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		AGTACTGCCAGAGTGAAGGTG	0.473																																						ENST00000339841.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(199-201)caG>caC		epididymal sperm binding protein 1							140.0	121.0	128.0					19																	48517558		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48517558G>C	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.201G>C	19.37:g.48517558G>C	ENSP00000340660:p.Gln67His					ELSPBP1_ENST00000597519.1_Intron	p.Q67H	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	3	379	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	67			Fibronectin type-II 1.		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.201G>C	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	G	0.815	-0.750553	0.03041	.	.	ENSG00000169393	ENST00000339841	T	0.09538	2.97	3.27	0.949	0.19566	Fibronectin, type II, collagen-binding (3);Kringle-like fold (2);	2.178000	0.02987	N	0.146390	T	0.08044	0.0201	L	0.29908	0.895	0.09310	N	1	B	0.26876	0.162	B	0.15052	0.012	T	0.31138	-0.9954	10	0.45353	T	0.12	.	2.0303	0.03528	0.2161:0.0:0.4705:0.3135	.	67	Q96BH3	ESPB1_HUMAN	H	67	ENSP00000340660:Q67H	ENSP00000340660:Q67H	Q	+	3	2	ELSPBP1	53209370	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.247000	0.18179	0.265000	0.21872	0.544000	0.68410	CAG		0.473	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			8	70	0	0	0	1	0	8	70				
CSMD3	114788	broad.mit.edu	37	8	113662509	113662509	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr8:113662509T>C	ENST00000297405.5	-	19	3318	c.3074A>G	c.(3073-3075)gAt>gGt	p.D1025G	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1025G|CSMD3_ENST00000343508.3_Missense_Mutation_p.D985G|CSMD3_ENST00000455883.2_Missense_Mutation_p.D921G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1025	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATGGAGAAATCATGACCATA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3073-3075)gAt>gGt		CUB and Sushi multiple domains 3							147.0	147.0	147.0					8																	113662509		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113662509T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3074A>G	8.37:g.113662509T>C	ENSP00000297405:p.Asp1025Gly	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.D1025G|CSMD3_ENST00000455883.2_Missense_Mutation_p.D921G|CSMD3_ENST00000343508.3_Missense_Mutation_p.D985G	p.D1025G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			19	3318	-			1025			Sushi 5.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3074A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773911	0.90108	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	6.08	6.08	0.98989	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	L	0.41961	1.31	0.44728	D	0.997728	P;P;P	0.50156	0.917;0.932;0.712	P;P;P	0.56865	0.709;0.808;0.535	T	0.03231	-1.1058	10	0.38643	T	0.18	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	921;1025;985	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	G	985;1025;365;921;1025	ENSP00000345799:D985G;ENSP00000297405:D1025G;ENSP00000341558:D365G;ENSP00000412263:D921G;ENSP00000343124:D1025G	ENSP00000297405:D1025G	D	-	2	0	CSMD3	113731685	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.253000	0.72453	2.333000	0.79357	0.533000	0.62120	GAT		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		86	85	0	0	0	1	0	86	85				
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	rs587782529		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; 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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)	ATCTCGAAGCGCTCACGCCCA	0.522		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)	ENST00000269305.4		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"""		31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(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	GRCh37	CM981929	TP53	M		c.(1009-1011)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							56.0	44.0	48.0					17																	7574018		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574018G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys	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_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000420246.2_3'UTR	p.R337C	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1198	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1009C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	19	0	0	0	1	0	13	19				
NFRKB	4798	broad.mit.edu	37	11	129739790	129739790	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr11:129739790C>T	ENST00000446488.3	-	23	3233	c.3130G>A	c.(3130-3132)Gtg>Atg	p.V1044M	NFRKB_ENST00000304521.5_Missense_Mutation_p.V1044M|NFRKB_ENST00000524794.1_Missense_Mutation_p.V1069M|NFRKB_ENST00000524746.1_Missense_Mutation_p.V1044M	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1044					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCAGGAGTCACTTTGACCACA	0.537																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(3130-3132)Gtg>Atg		nuclear factor related to kappaB binding protein							110.0	91.0	98.0					11																	129739790		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129739790C>T		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3130G>A	11.37:g.129739790C>T	ENSP00000400476:p.Val1044Met					NFRKB_ENST00000304521.5_Missense_Mutation_p.V1044M|NFRKB_ENST00000524794.1_Missense_Mutation_p.V1069M|NFRKB_ENST00000524746.1_Missense_Mutation_p.V1044M	p.V1044M	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	23	3233	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	1044					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.3130G>A	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332232	0.60853	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746	.	.	.	5.1	5.1	0.69264	.	0.188415	0.46145	D	0.000314	T	0.61261	0.2333	L	0.27053	0.805	0.40382	D	0.979452	D;D;D	0.67145	0.996;0.98;0.98	P;P;P	0.62491	0.903;0.868;0.814	T	0.64183	-0.6467	9	0.49607	T	0.09	-15.618	14.1606	0.65443	0.0:0.85:0.15:0.0	.	1044;1043;1069	Q6P4R8;Q6P4R8-3;Q6P4R8-2	NFRKB_HUMAN;.;.	M	1044;1044;1069;1044	.	ENSP00000303800:V1044M	V	-	1	0	NFRKB	129245000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.706000	0.54830	2.363000	0.80096	0.655000	0.94253	GTG		0.537	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		17	57	0	0	0	1	0	17	57				
DLG5	9231	broad.mit.edu	37	10	79581668	79581668	+	Silent	SNP	T	T	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:79581668T>A	ENST00000372391.2	-	15	2579	c.2574A>T	c.(2572-2574)ccA>ccT	p.P858P	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'Flank	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	858					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGGGGGGCCTGGCTCCTTCC	0.592																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2572-2574)ccA>ccT		discs, large homolog 5 (Drosophila)							84.0	86.0	85.0					10																	79581668		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581668T>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2574A>T	10.37:g.79581668T>A						DLG5_ENST00000372388.2_Intron	p.P858P	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	2579	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		858					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.2574A>T	CCDS7353.2																																																																																				0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			24	46	0	0	0	1	0	24	46				
MNDA	4332	broad.mit.edu	37	1	158813850	158813850	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:158813850G>A	ENST00000368141.4	+	4	769	c.508G>A	c.(508-510)Gtg>Atg	p.V170M		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	170					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ATCTGCAGCTGTGGATCATCC	0.478																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(508-510)Gtg>Atg		myeloid cell nuclear differentiation antigen							259.0	213.0	228.0					1																	158813850		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158813850G>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.508G>A	1.37:g.158813850G>A	ENSP00000357123:p.Val170Met						p.V170M	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			4	769	+	all_hematologic(112;0.0378)		170						Missense_Mutation	SNP	ENST00000368141.4	37	c.508G>A	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	G	4.923	0.171422	0.09391	.	.	ENSG00000163563	ENST00000368141	T	0.04862	3.54	2.94	-2.13	0.07144	.	.	.	.	.	T	0.00552	0.0018	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45101	-0.9284	9	0.25106	T	0.35	-0.2149	7.4375	0.27164	0.4621:0.0:0.5379:0.0	.	170	P41218	MNDA_HUMAN	M	170	ENSP00000357123:V170M	ENSP00000357123:V170M	V	+	1	0	MNDA	157080474	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.518000	0.02246	-0.519000	0.06444	-0.414000	0.06135	GTG		0.478	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		66	152	0	0	0	1	0	66	152				
PKD1	5310	broad.mit.edu	37	16	2165590	2165590	+	Missense_Mutation	SNP	G	G	A	rs569768187	byFrequency	TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr16:2165590G>A	ENST00000262304.4	-	10	2094	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	PKD1_ENST00000423118.1_Missense_Mutation_p.S629F|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	629					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTGTCCGGGGACCTGCTCTC	0.692													g|||	2	0.000399361	0.0	0.0	5008	,	,		13434	0.002		0.0	False		,,,				2504	0.0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72	GRCh37	CM057348	PKD1	M		c.(1885-1887)tCc>tTc		polycystic kidney disease 1 (autosomal dominant)							6.0	6.0	6.0					16																	2165590		2040	4057	6097	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2165590G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.1886C>T	16.37:g.2165590G>A	ENSP00000262304:p.Ser629Phe					PKD1_ENST00000423118.1_Missense_Mutation_p.S629F	p.S629F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			10	2094	-			629					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.1886C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	G	8.165	0.790501	0.16258	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.37058	1.22;1.22	3.89	1.89	0.25635	Polycystin cation channel (1);	1.109720	0.06656	N	0.763709	T	0.27933	0.0688	L	0.38838	1.175	0.09310	N	1	B;B	0.13594	0.004;0.008	B;B	0.14023	0.01;0.009	T	0.31420	-0.9944	10	0.59425	D	0.04	.	3.9723	0.09458	0.2101:0.0:0.602:0.1879	.	629;629	P98161-3;P98161	.;PKD1_HUMAN	F	629;629;577	ENSP00000262304:S629F;ENSP00000399501:S629F	ENSP00000262304:S629F	S	-	2	0	PKD1	2105591	0.002000	0.14202	0.009000	0.14445	0.007000	0.05969	1.076000	0.30729	0.607000	0.29982	-0.252000	0.11476	TCC		0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			5	2	0	0	0	1	0	5	2				
KRTAP9-8	83901	broad.mit.edu	37	17	39394318	39394318	+	Silent	SNP	T	T	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:39394318T>C	ENST00000254072.6	+	1	22	c.15T>C	c.(13-15)tgT>tgC	p.C5C		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	5						keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCACTGTTGTTCCCCTTGCT	0.572																																						ENST00000254072.6																			0				lung(8)|ovary(1)|prostate(1)	10						c.(13-15)tgT>tgC		keratin associated protein 9-8							158.0	203.0	188.0					17																	39394318		2105	4300	6405	SO:0001819	synonymous_variant	83901					keratin filament		g.chr17:39394318T>C	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.15T>C	17.37:g.39394318T>C							p.C5C	NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	22	+		Breast(137;0.000496)	5						Silent	SNP	ENST00000254072.6	37	c.15T>C	CCDS42334.1																																																																																				0.572	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			11	106	0	0	0	1	0	11	106				
PPIL2	23759	broad.mit.edu	37	22	22035601	22035601	+	Silent	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr22:22035601C>T	ENST00000335025.8	+	7	400	c.309C>T	c.(307-309)tgC>tgT	p.C103C	PPIL2_ENST00000492445.2_Silent_p.C103C|PPIL2_ENST00000406385.1_Silent_p.C103C|PPIL2_ENST00000412327.1_Silent_p.C103C|PPIL2_ENST00000398831.3_Silent_p.C103C|PPIL2_ENST00000456792.2_Silent_p.C82C					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AGTACCACTGCCCAGTGCTGT	0.607																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(307-309)tgC>tgT		peptidylprolyl isomerase (cyclophilin)-like 2							159.0	115.0	130.0					22																	22035601		2203	4300	6503	SO:0001819	synonymous_variant	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22035601C>T		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.309C>T	22.37:g.22035601C>T						PPIL2_ENST00000398831.3_Silent_p.C103C|PPIL2_ENST00000456792.2_Silent_p.C82C|PPIL2_ENST00000335025.7_Silent_p.C103C|PPIL2_ENST00000412327.1_Silent_p.C103C|PPIL2_ENST00000492445.2_Silent_p.C103C	p.C103C			Q13356	PPIL2_HUMAN			7	369	+	Colorectal(54;0.105)		103						Silent	SNP	ENST00000335025.8	37	c.309C>T	CCDS13793.1																																																																																				0.607	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			15	46	0	0	0	1	0	15	46				
DNAH17	8632	broad.mit.edu	37	17	76449525	76449525	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:76449525C>T	ENST00000585328.1	-	65	10538	c.10414G>A	c.(10414-10416)Gcc>Acc	p.A3472T	DNAH17_ENST00000389840.5_Missense_Mutation_p.A3463T|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3463	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCGAGATGGCCTGCTCGATG	0.597																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(10387-10389)Gcc>Acc		dynein, axonemal, heavy chain 17							127.0	85.0	100.0					17																	76449525		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76449525C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10414G>A	17.37:g.76449525C>T	ENSP00000465516:p.Ala3472Thr					DNAH17_ENST00000585328.1_Missense_Mutation_p.A3472T|DNAH17_ENST00000586052.1_5'UTR	p.A3463T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		65	10511	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.10387G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.358476	0.95854	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.31510	1.49	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000012	T	0.66790	0.2825	H	0.94771	3.58	0.50039	D	0.999849	D	0.69078	0.997	D	0.68483	0.958	T	0.78645	-0.2123	10	0.72032	D	0.01	.	17.8835	0.88848	0.0:1.0:0.0:0.0	.	3472	E7EUM8	.	T	3472;3463	ENSP00000374490:A3463T	ENSP00000300671:A3472T	A	-	1	0	DNAH17	73961120	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.558000	0.82253	2.225000	0.72522	0.511000	0.50034	GCC		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	42	0	0	0	1	0	4	42				
BCORL1	63035	broad.mit.edu	37	X	129171431	129171431	+	Silent	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chrX:129171431C>T	ENST00000218147.7	+	9	4592	c.4395C>T	c.(4393-4395)tcC>tcT	p.S1465S	BCORL1_ENST00000359304.2_Silent_p.S1335S|BCORL1_ENST00000303743.5_Silent_p.S1539S|BCORL1_ENST00000540052.1_Silent_p.S1465S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1465					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGCTTGTTCCCGGGGCTGGA	0.592																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4393-4395)tcC>tcT		BCL6 corepressor-like 1							128.0	95.0	106.0					X																	129171431		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129171431C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4395C>T	X.37:g.129171431C>T						BCORL1_ENST00000303743.5_Silent_p.S1539S|BCORL1_ENST00000218147.7_Silent_p.S1465S|BCORL1_ENST00000359304.2_Silent_p.S1335S	p.S1465S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			8	4439	+			1465					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.4395C>T	CCDS14616.1																																																																																				0.592	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		35	31	0	0	0	1	0	35	31				
CIZ1	25792	broad.mit.edu	37	9	130941438	130941438	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr9:130941438A>T	ENST00000393608.1	-	8	1250	c.1048T>A	c.(1048-1050)Tct>Act	p.S350T	CIZ1_ENST00000372948.3_Missense_Mutation_p.S350T|CIZ1_ENST00000541172.1_Missense_Mutation_p.S249T|CIZ1_ENST00000325721.8_Missense_Mutation_p.S321T|CIZ1_ENST00000277465.4_Missense_Mutation_p.S350T|CIZ1_ENST00000372954.1_Missense_Mutation_p.S326T|CIZ1_ENST00000538431.1_Missense_Mutation_p.S350T|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000372938.5_Missense_Mutation_p.S350T|CIZ1_ENST00000357558.5_Missense_Mutation_p.S350T	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	350	Gln-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TGCTCTGGAGAGGTCTGTGTT	0.612																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(1048-1050)Tct>Act		CDKN1A interacting zinc finger protein 1							56.0	56.0	56.0					9																	130941438		2203	4300	6503	SO:0001583	missense	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130941438A>T	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1048T>A	9.37:g.130941438A>T	ENSP00000377232:p.Ser350Thr					CIZ1_ENST00000372954.1_Missense_Mutation_p.S326T|CIZ1_ENST00000372938.5_Missense_Mutation_p.S350T|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000277465.4_Missense_Mutation_p.S350T|CIZ1_ENST00000325721.8_Missense_Mutation_p.S321T|CIZ1_ENST00000393608.1_Missense_Mutation_p.S350T|CIZ1_ENST00000372948.3_Missense_Mutation_p.S350T|CIZ1_ENST00000357558.5_Missense_Mutation_p.S350T|CIZ1_ENST00000541172.1_Missense_Mutation_p.S249T	p.S350T	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			8	1295	-			350			Gln-rich.		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	c.1048T>A	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287442	0.59976	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.37752	1.19;1.32;1.3;1.71;1.32;1.73;1.71;1.18;1.32;1.92	4.55	3.4	0.38934	.	0.415062	0.20961	N	0.082579	T	0.40222	0.1108	L	0.36672	1.1	0.09310	N	1	B;P;P;P;D;D;P;P	0.69078	0.421;0.952;0.763;0.95;0.971;0.997;0.557;0.952	B;P;B;P;P;P;B;P	0.58520	0.202;0.601;0.288;0.648;0.775;0.84;0.366;0.601	T	0.11817	-1.0572	10	0.33940	T	0.23	-0.8895	9.2307	0.37434	0.838:0.0:0.0:0.1619	.	350;345;350;350;326;350;321;350	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	T	326;350;350;350;321;317;249;350;326;350;350;272	ENSP00000362045:S326T;ENSP00000377232:S350T;ENSP00000439244:S350T;ENSP00000350169:S350T;ENSP00000320374:S321T;ENSP00000445057:S249T;ENSP00000277465:S350T;ENSP00000362039:S350T;ENSP00000362029:S350T;ENSP00000398011:S272T	ENSP00000277465:S350T	S	-	1	0	CIZ1	129981259	0.001000	0.12720	0.635000	0.29338	0.842000	0.47809	1.140000	0.31516	1.042000	0.40150	0.459000	0.35465	TCT		0.612	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		53	81	0	0	0	1	0	53	81				
ADH1C	126	broad.mit.edu	37	4	100266156	100266156	+	RNA	SNP	C	C	T	rs78241133		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr4:100266156C>T	ENST00000510055.1	-	0	604				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AAGGTGCTGACGCCGACGAAG	0.577																																						ENST00000510055.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)						89.0	87.0	88.0					4																	100266156		2203	4300	6503			126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100266156C>T	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100266156C>T						ADH1C_ENST00000515683.1_RNA				P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	604	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000510055.1	37																																																																																						0.577	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		30	92	0	0	0	1	0	30	92				
CNGB3	54714	broad.mit.edu	37	8	87591012	87591012	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr8:87591012C>G	ENST00000320005.5	-	17	2055	c.2008G>C	c.(2008-2010)Gaa>Caa	p.E670Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	670					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGTGTCTCTTCTTTCGGTGGG	0.468																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(2008-2010)Gaa>Caa		cyclic nucleotide gated channel beta 3							140.0	137.0	138.0					8																	87591012		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87591012C>G	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2008G>C	8.37:g.87591012C>G	ENSP00000316605:p.Glu670Gln						p.E670Q	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			17	2055	-			670					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.2008G>C	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	2.803	-0.248690	0.05867	.	.	ENSG00000170289	ENST00000517327;ENST00000320005	T;T	0.77489	-1.1;0.05	5.3	0.117	0.14652	.	0.592800	0.14672	N	0.305297	T	0.51753	0.1693	N	0.02539	-0.55	0.24991	N	0.991537	B;B	0.15473	0.013;0.004	B;B	0.17979	0.02;0.005	T	0.38243	-0.9670	10	0.30078	T	0.28	.	11.5325	0.50618	0.0:0.1725:0.607:0.2205	.	665;670	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	Q	61;670	ENSP00000428329:E61Q;ENSP00000316605:E670Q	ENSP00000316605:E670Q	E	-	1	0	CNGB3	87660128	0.994000	0.37717	0.206000	0.23566	0.584000	0.36387	0.486000	0.22340	-0.286000	0.09076	0.467000	0.42956	GAA		0.468	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		69	77	0	0	0	1	0	69	77				
NRXN1	9378	broad.mit.edu	37	2	51255079	51255079	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr2:51255079G>C	ENST00000406316.2	-	2	1809	c.333C>G	c.(331-333)gaC>gaG	p.D111E	NRXN1_ENST00000401669.2_Missense_Mutation_p.D111E|NRXN1_ENST00000405472.3_Missense_Mutation_p.D111E|NRXN1_ENST00000405581.1_Missense_Mutation_p.D111E|NRXN1_ENST00000404971.1_Missense_Mutation_p.D111E|NRXN1_ENST00000402717.3_Missense_Mutation_p.D111E|NRXN1_ENST00000406859.3_Missense_Mutation_p.D111E	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	111	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.D111D(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCAGGCGCCGTCGTTAACCG	0.662																																						ENST00000404971.1																			3	Substitution - coding silent(3)	p.D111D(3)	cervix(3)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(331-333)gaC>gaG		neurexin 1							22.0	27.0	25.0					2																	51255079		2057	4196	6253	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255079G>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.333C>G	2.37:g.51255079G>C	ENSP00000384311:p.Asp111Glu					NRXN1_ENST00000406316.2_Missense_Mutation_p.D111E|NRXN1_ENST00000401669.2_Missense_Mutation_p.D111E|NRXN1_ENST00000402717.3_Missense_Mutation_p.D111E|NRXN1_ENST00000405581.1_Missense_Mutation_p.D111E|NRXN1_ENST00000406859.3_Missense_Mutation_p.D111E|NRXN1_ENST00000405472.3_Missense_Mutation_p.D111E	p.D111E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1672	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	111			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.333C>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363841	0.61513	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	4.97	1.67	0.24075	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.27105	U	0.020920	D	0.93684	0.7982	M	0.91612	3.225	0.31648	N	0.647145	D;D;B	0.89917	1.0;0.999;0.057	D;D;B	0.97110	1.0;0.998;0.054	D	0.92446	0.5966	10	0.87932	D	0	.	10.9511	0.47330	0.245:0.0:0.755:0.0	.	111;111;111	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	E	111	ENSP00000385142:D111E;ENSP00000384311:D111E;ENSP00000434015:D111E;ENSP00000385017:D111E;ENSP00000385434:D111E;ENSP00000385681:D111E;ENSP00000385310:D111E	ENSP00000385017:D111E	D	-	3	2	NRXN1	51108583	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	1.161000	0.31773	0.499000	0.27970	0.563000	0.77884	GAC		0.662	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			15	33	0	0	0	1	0	15	33				
MCTP1	79772	broad.mit.edu	37	5	94043232	94043232	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr5:94043232G>T	ENST00000515393.1	-	23	2968	c.2969C>A	c.(2968-2970)cCa>cAa	p.P990Q	MCTP1_ENST00000312216.8_Missense_Mutation_p.P769Q|MCTP1_ENST00000429576.2_Missense_Mutation_p.P683Q|MCTP1_ENST00000505078.1_Missense_Mutation_p.P506Q|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	990					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTTTTATATGGGCTATGAGA	0.453																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2968-2970)cCa>cAa		multiple C2 domains, transmembrane 1							154.0	149.0	151.0					5																	94043232		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94043232G>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2969C>A	5.37:g.94043232G>T	ENSP00000424126:p.Pro990Gln					MCTP1_ENST00000312216.8_Missense_Mutation_p.P769Q|MCTP1_ENST00000514040.1_Intron|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000505078.1_Missense_Mutation_p.P506Q|MCTP1_ENST00000429576.2_Missense_Mutation_p.P683Q	p.P990Q	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	23	2968	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	990					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.2969C>A	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195363	0.78902	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216	T;T;T;T	0.78816	-1.21;-0.91;-0.11;-1.07	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.87861	0.6284	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.998;0.998;0.92	D	0.88302	0.2950	10	0.87932	D	0	-8.1772	19.736	0.96205	0.0:0.0:1.0:0.0	.	990;683;769	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	Q	990;683;506;769	ENSP00000424126:P990Q;ENSP00000391639:P683Q;ENSP00000426417:P506Q;ENSP00000308957:P769Q	ENSP00000308957:P769Q	P	-	2	0	MCTP1	94068988	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.975000	0.93437	2.669000	0.90835	0.591000	0.81541	CCA		0.453	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		31	42	1	0	6.97489e-18	1	7.89719e-18	31	42				
KCNB2	9312	broad.mit.edu	37	8	73480018	73480018	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr8:73480018A>G	ENST00000523207.1	+	2	637	c.49A>G	c.(49-51)Aca>Gca	p.T17A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	17					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TTCAAGGTCGACACTTTCCCT	0.512																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(49-51)Aca>Gca		potassium voltage-gated channel, Shab-related subfamily, member 2							89.0	89.0	89.0					8																	73480018		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480018A>G	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.49A>G	8.37:g.73480018A>G	ENSP00000430846:p.Thr17Ala						p.T17A	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	637	+	Breast(64;0.137)		17					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.49A>G	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.167135	0.38217	.	.	ENSG00000182674	ENST00000523207	D	0.96745	-4.11	5.95	4.79	0.61399	.	.	.	.	.	D	0.92609	0.7652	L	0.32530	0.975	0.22541	N	0.99901	B	0.27013	0.166	B	0.19666	0.026	D	0.85088	0.0950	9	0.41790	T	0.15	.	11.9014	0.52687	0.9323:0.0:0.0677:0.0	.	17	Q92953	KCNB2_HUMAN	A	17	ENSP00000430846:T17A	ENSP00000430846:T17A	T	+	1	0	KCNB2	73642572	0.968000	0.33430	0.823000	0.32752	0.991000	0.79684	4.412000	0.59787	1.075000	0.40932	0.533000	0.62120	ACA		0.512	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		97	95	0	0	0	1	0	97	95				
OR1L4	254973	broad.mit.edu	37	9	125486859	125486859	+	Silent	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr9:125486859G>A	ENST00000259466.1	+	1	591	c.591G>A	c.(589-591)caG>caA	p.Q197Q		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCTCCAGCCAGATGGTGGTGA	0.502																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(589-591)caG>caA		olfactory receptor, family 1, subfamily L, member 4							298.0	278.0	285.0					9																	125486859		2203	4297	6500	SO:0001819	synonymous_variant	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486859G>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.591G>A	9.37:g.125486859G>A							p.Q197Q	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	591	+			197					Q6IFN0|Q96R81	Silent	SNP	ENST00000259466.1	37	c.591G>A	CCDS35129.1																																																																																				0.502	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			48	402	0	0	0	1	0	48	402				
CD27	939	broad.mit.edu	37	12	6559495	6559495	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:6559495C>A	ENST00000266557.3	+	3	654	c.425C>A	c.(424-426)cCc>cAc	p.P142H	CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|TAPBPL_ENST00000266556.7_5'Flank|TAPBPL_ENST00000544021.1_5'Flank	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	142					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CACCCTCAGCCCACCCACTTA	0.602																																						ENST00000266557.3																			0				kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						c.(424-426)cCc>cAc		CD27 molecule							134.0	112.0	119.0					12																	6559495		2203	4300	6503	SO:0001583	missense	939				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	g.chr12:6559495C>A	M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.425C>A	12.37:g.6559495C>A	ENSP00000266557:p.Pro142His					CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|CD27_ENST00000541233.1_3'UTR	p.P142H	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN			3	654	+			142					B2RDZ0	Missense_Mutation	SNP	ENST00000266557.3	37	c.425C>A	CCDS8545.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100451	0.76983	.	.	ENSG00000139193	ENST00000266557	D	0.97089	-4.24	3.87	3.87	0.44632	.	4.023140	0.00610	N	0.000404	D	0.97845	0.9292	M	0.63843	1.955	0.19575	N	0.999961	D	0.71674	0.998	P	0.57911	0.829	D	0.89655	0.3872	10	0.87932	D	0	-10.9294	11.1996	0.48733	0.0:1.0:0.0:0.0	.	142	P26842	CD27_HUMAN	H	142	ENSP00000266557:P142H	ENSP00000266557:P142H	P	+	2	0	CD27	6429756	0.006000	0.16342	0.802000	0.32245	0.442000	0.32017	1.988000	0.40697	2.004000	0.58718	0.561000	0.74099	CCC		0.602	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1			34	92	1	0	1.07637e-12	1	1.1797e-12	34	92				
ATF7IP	55729	broad.mit.edu	37	12	14634098	14634098	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:14634098C>G	ENST00000540793.1	+	12	3414	c.3259C>G	c.(3259-3261)Cgg>Ggg	p.R1087G	ATF7IP_ENST00000261168.4_Missense_Mutation_p.R1087G|ATF7IP_ENST00000544627.1_Missense_Mutation_p.R1095G|ATF7IP_ENST00000543189.1_Missense_Mutation_p.R1086G|ATF7IP_ENST00000536444.1_Missense_Mutation_p.R1086G			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1087					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCCTGCTGTTCGGCAGGTCAA	0.458																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3283-3285)Cgg>Ggg		activating transcription factor 7 interacting protein							63.0	62.0	62.0					12																	14634098		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14634098C>G	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3259C>G	12.37:g.14634098C>G	ENSP00000444589:p.Arg1087Gly					ATF7IP_ENST00000543189.1_Missense_Mutation_p.R1086G|ATF7IP_ENST00000540793.1_Missense_Mutation_p.R1087G|ATF7IP_ENST00000261168.4_Missense_Mutation_p.R1087G|ATF7IP_ENST00000536444.1_Missense_Mutation_p.R1086G	p.R1095G			Q6VMQ6	MCAF1_HUMAN			13	3603	+			1087					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3283C>G	CCDS8663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.280120|3.280120	0.59758|0.59758	.|.	.|.	ENSG00000171681|ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793|ENST00000535738	T;T;T;T;T|.	0.39592|.	1.76;1.07;1.73;1.76;1.76|.	5.43|5.43	2.45|2.45	0.29901|0.29901	.|.	0.000000|.	0.56097|.	D|.	0.000023|.	T|T	0.60663|0.60663	0.2286|0.2286	M|M	0.61703|0.61703	1.905|1.905	0.49299|0.49299	D|D	0.999778|0.999778	D;D;D|.	0.76494|.	0.998;0.998;0.999|.	D;D;D|.	0.80764|.	0.994;0.994;0.964|.	T|T	0.54403|0.54403	-0.8299|-0.8299	10|5	0.66056|.	D|.	0.02|.	-11.2916|-11.2916	8.9706|8.9706	0.35903|0.35903	0.5716:0.3542:0.0:0.0742|0.5716:0.3542:0.0:0.0742	.|.	1086;1087;1086|.	G3V1U0;Q6VMQ6;Q6VMQ6-2|.	.;MCAF1_HUMAN;.|.	G|W	1087;1086;1086;1095;1087|100	ENSP00000261168:R1087G;ENSP00000443179:R1086G;ENSP00000445955:R1086G;ENSP00000440440:R1095G;ENSP00000444589:R1087G|.	ENSP00000261168:R1087G|.	R|S	+|+	1|2	2|0	ATF7IP|ATF7IP	14525365|14525365	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.982000|0.982000	0.71751|0.71751	1.896000|1.896000	0.39789|0.39789	0.278000|0.278000	0.22164|0.22164	-0.157000|-0.157000	0.13467|0.13467	CGG|TCG		0.458	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		12	67	0	0	0	1	0	12	67				
EFCAB12	90288	broad.mit.edu	37	3	129140502	129140502	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr3:129140502T>C	ENST00000505956.1	-	2	356	c.194A>G	c.(193-195)aAg>aGg	p.K65R	EFCAB12_ENST00000326085.3_Missense_Mutation_p.K65R	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	65							calcium ion binding (GO:0005509)										CTGATCCTCCTTGCGAGGCAC	0.557																																						ENST00000505956.1																			0											c.(193-195)aAg>aGg		EF-hand calcium binding domain 12							58.0	59.0	58.0					3																	129140502		1951	4147	6098	SO:0001583	missense	90288							g.chr3:129140502T>C	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.194A>G	3.37:g.129140502T>C	ENSP00000420854:p.Lys65Arg					EFCAB12_ENST00000326085.3_Missense_Mutation_p.K65R	p.K65R	NM_207307.1	NP_997190.1					2	356	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.194A>G	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	T	6.791	0.514949	0.12944	.	.	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.14893	2.47;2.47	3.97	-3.86	0.04230	.	1.384760	0.04780	N	0.429684	T	0.09069	0.0224	L	0.29908	0.895	0.09310	N	1	P	0.36535	0.557	B	0.33620	0.167	T	0.19614	-1.0300	10	0.23891	T	0.37	-0.6988	1.0569	0.01592	0.3579:0.0974:0.2961:0.2486	.	65	Q6NXP0	CC025_HUMAN	R	65	ENSP00000420854:K65R;ENSP00000324241:K65R	ENSP00000324241:K65R	K	-	2	0	C3orf25	130623192	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.570000	0.05895	-0.704000	0.05042	-1.093000	0.02169	AAG		0.557	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		15	30	0	0	0	1	0	15	30				
VCAN	1462	broad.mit.edu	37	5	82875883	82875883	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr5:82875883G>A	ENST00000265077.3	+	14	10530	c.9965G>A	c.(9964-9966)aGa>aAa	p.R3322K	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Missense_Mutation_p.R1520K|VCAN_ENST00000343200.5_Missense_Mutation_p.R2335K|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Missense_Mutation_p.R581K|VCAN_ENST00000342785.4_Missense_Mutation_p.R1568K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3322	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCCCTGATTAGATACCACTGC	0.438																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(9964-9966)aGa>aAa		versican							142.0	133.0	136.0					5																	82875883		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82875883G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9965G>A	5.37:g.82875883G>A	ENSP00000265077:p.Arg3322Lys					VCAN_ENST00000502527.2_Missense_Mutation_p.R581K|VCAN_ENST00000512590.2_Missense_Mutation_p.R1520K|VCAN_ENST00000342785.4_Missense_Mutation_p.R1568K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.R2335K|VCAN-AS1_ENST00000513899.1_RNA	p.R3322K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	14	10530	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3322			Sushi.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9965G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779879	0.90195	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	6.03	6.03	0.97812	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000010	T	0.81384	0.4811	M	0.77313	2.365	0.46011	D	0.998815	D;D;D;D	0.89917	1.0;0.996;0.997;1.0	D;D;D;D	0.87578	0.996;0.987;0.989;0.998	T	0.81402	-0.0949	10	0.66056	D	0.02	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1568;581;2335;3322	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	K	3322;2335;1568;1520;581	ENSP00000265077:R3322K;ENSP00000340062:R2335K;ENSP00000342768:R1568K;ENSP00000425959:R1520K;ENSP00000421362:R581K	ENSP00000265077:R3322K	R	+	2	0	VCAN	82911639	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	AGA		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		44	48	0	0	0	1	0	44	48				
INTS5	80789	broad.mit.edu	37	11	62415004	62415004	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr11:62415004G>A	ENST00000330574.2	-	2	2600	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	850					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TCGCGGAAGCGCCGGCCAATG	0.672																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2548-2550)Cgc>Tgc		integrator complex subunit 5							32.0	38.0	36.0					11																	62415004		2194	4293	6487	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415004G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2548C>T	11.37:g.62415004G>A	ENSP00000327889:p.Arg850Cys						p.R850C	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	2600	-			850					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.2548C>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265748	0.23136	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.43	3.55	0.40652	.	0.053917	0.85682	D	0.000000	T	0.14874	0.0359	N	0.00538	-1.39	0.48236	D	0.999619	B	0.06786	0.001	B	0.04013	0.001	T	0.03335	-1.1047	9	0.44086	T	0.13	.	5.742	0.18100	0.1675:0.1605:0.672:0.0	.	850	Q6P9B9	INT5_HUMAN	C	850	.	ENSP00000327889:R850C	R	-	1	0	INTS5	62171580	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.495000	0.60353	0.843000	0.35070	-0.182000	0.12963	CGC		0.672	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		30	88	0	0	0	1	0	30	88				
ADAMTS20	80070	broad.mit.edu	37	12	43833789	43833789	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:43833789T>C	ENST00000389420.3	-	17	2373	c.2374A>G	c.(2374-2376)Aca>Gca	p.T792A	ADAMTS20_ENST00000395541.2_5'Flank|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T792A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	792	Spacer.			Missing (in Ref. 2; CAD56159/CAD56160). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACAGTTCTTGTTCCTTGCACA	0.313																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2374-2376)Aca>Gca		ADAM metallopeptidase with thrombospondin type 1 motif, 20							87.0	75.0	79.0					12																	43833789		2198	4290	6488	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43833789T>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2374A>G	12.37:g.43833789T>C	ENSP00000374071:p.Thr792Ala					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T792A	p.T792A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	17	2373	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	792	Missing (in Ref. 2; CAD56159/CAD56160).		Spacer.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2374A>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	1.306	-0.603524	0.03717	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.54279	0.58;0.58	5.19	3.34	0.38264	ADAM-TS Spacer 1 (1);	0.241777	0.28606	N	0.014746	T	0.22742	0.0549	N	0.03891	-0.335	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.17501	-1.0367	10	0.02654	T	1	.	9.0311	0.36260	0.0:0.7657:0.0:0.2343	.	792	P59510	ATS20_HUMAN	A	792	ENSP00000374071:T792A;ENSP00000448341:T792A	ENSP00000374068:T792A	T	-	1	0	ADAMTS20	42120056	1.000000	0.71417	0.985000	0.45067	0.251000	0.25915	2.238000	0.43070	0.820000	0.34516	-0.248000	0.11899	ACA		0.313	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		6	9	0	0	0	1	0	6	9				
MKI67	4288	broad.mit.edu	37	10	129906835	129906835	+	Missense_Mutation	SNP	C	C	G	rs144881533		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:129906835C>G	ENST00000368654.3	-	13	3644	c.3269G>C	c.(3268-3270)aGa>aCa	p.R1090T	MKI67_ENST00000368653.3_Missense_Mutation_p.R730T|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1090	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTAGGCGTTCTTGGCCACTT	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18965	0.0		0.0	False		,,,				2504	0.0					ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3268-3270)aGa>aCa		marker of proliferation Ki-67		C	THR/ARG,THR/ARG	1,4405	2.1+/-5.4	0,1,2202	169.0	160.0	163.0		2189,3269	-0.2	0.0	10	dbSNP_134	163	0,8600		0,0,4300	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	71,71	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	730/2897,1090/3257	129906835	1,13005	2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906835C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3269G>C	10.37:g.129906835C>G	ENSP00000357643:p.Arg1090Thr					MKI67_ENST00000368653.3_Missense_Mutation_p.R730T	p.R1090T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3644	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1090			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3269G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313002	0.40895	2.27E-4	0.0	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02763	4.17;4.17	3.93	-0.229	0.13094	.	.	.	.	.	T	0.02119	0.0066	L	0.39397	1.21	0.09310	N	1	P;P;P	0.40970	0.582;0.734;0.476	B;B;B	0.35470	0.188;0.203;0.1	T	0.45977	-0.9224	9	0.15499	T	0.54	.	4.6367	0.12528	0.0:0.4584:0.1565:0.3851	.	1089;730;1090	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	1090;730;1089	ENSP00000357643:R1090T;ENSP00000357642:R730T	ENSP00000357642:R730T	R	-	2	0	MKI67	129796825	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.588000	0.05774	-0.141000	0.11374	0.561000	0.74099	AGA		0.522	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		36	161	0	0	0	1	0	36	161				
FKBP10	60681	broad.mit.edu	37	17	39977976	39977976	+	Silent	SNP	C	C	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:39977976C>A	ENST00000321562.4	+	9	1574	c.1470C>A	c.(1468-1470)ccC>ccA	p.P490P	FKBP10_ENST00000544340.1_Silent_p.P263P	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	490					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ATGGGCTGCCCACAGGCTACC	0.637																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(1468-1470)ccC>ccA		FK506 binding protein 10, 65 kDa							146.0	130.0	136.0					17																	39977976		2203	4300	6503	SO:0001819	synonymous_variant	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39977976C>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1470C>A	17.37:g.39977976C>A						FKBP10_ENST00000544340.1_Silent_p.P263P	p.P490P	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	9	1574	+		Breast(137;0.00122)	490					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	c.1470C>A	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	C	7.882	0.730435	0.15507	.	.	ENSG00000141756	ENST00000455106	T	0.50548	0.74	5.42	-2.23	0.06930	.	0.000000	0.64402	D	0.000001	T	0.41073	0.1143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36432	-0.9748	7	0.62326	D	0.03	-20.9093	0.5468	0.00655	0.201:0.277:0.1895:0.3325	.	.	.	.	Q	294	ENSP00000416822:P294Q	ENSP00000416822:P294Q	P	+	2	0	FKBP10	37231502	0.000000	0.05858	0.129000	0.21949	0.996000	0.88848	-5.595000	0.00111	0.004000	0.14682	0.455000	0.32223	CCA		0.637	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		29	87	1	0	1.13719e-10	1	1.23647e-10	29	87				
SYNJ1	8867	broad.mit.edu	37	21	34011985	34011985	+	Silent	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr21:34011985C>T	ENST00000322229.7	-	29	3692	c.3693G>A	c.(3691-3693)tcG>tcA	p.S1231S	SYNJ1_ENST00000357345.3_Silent_p.S1215S|SYNJ1_ENST00000382499.2_Silent_p.S1270S|SYNJ1_ENST00000433931.2_Silent_p.S1270S|SYNJ1_ENST00000382491.3_Silent_p.S1184S			O43426	SYNJ1_HUMAN	synaptojanin 1	1231	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACCTACCTTTCGACGTTTCTG	0.527																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(3808-3810)tcG>tcA		synaptojanin 1							118.0	98.0	105.0					21																	34011985		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34011985C>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3693G>A	21.37:g.34011985C>T						SYNJ1_ENST00000433931.2_Silent_p.S1270S|SYNJ1_ENST00000357345.3_Silent_p.S1215S|SYNJ1_ENST00000382491.3_Silent_p.S1184S|SYNJ1_ENST00000322229.7_Silent_p.S1231S	p.S1270S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			30	3809	-			1231			Pro-rich.		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.3810G>A	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.497|4.497	0.092156|0.092156	0.08632|0.08632	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000438952;ENST00000416083|ENST00000418301	.|.	.|.	.|.	4.27|4.27	-4.33|-4.33	0.03677|0.03677	.|.	.|.	.|.	.|.	.|.	T|T	0.49626|0.49626	0.1568|0.1568	.|.	.|.	.|.	0.52501|0.52501	D|D	0.999955|0.999955	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.47005|0.47005	-0.9150|-0.9150	4|4	.|.	.|.	.|.	.|.	6.9383|6.9383	0.24478|0.24478	0.0:0.2268:0.2277:0.5455|0.0:0.2268:0.2277:0.5455	.|.	.|.	.|.	.|.	K|Q	107;84|52	.|.	.|.	E|R	-|-	1|2	0|0	SYNJ1|SYNJ1	32933856|32933856	0.003000|0.003000	0.15002|0.15002	0.005000|0.005000	0.12908|0.12908	0.096000|0.096000	0.18686|0.18686	-0.853000|-0.853000	0.04303|0.04303	-0.917000|-0.917000	0.03813|0.03813	-0.459000|-0.459000	0.05422|0.05422	GAA|CGA		0.527	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				8	37	0	0	0	1	0	8	37				
TNFRSF14	8764	broad.mit.edu	37	1	2491372	2491372	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:2491372C>T	ENST00000355716.4	+	4	714	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	RP3-395M20.8_ENST00000452793.1_RNA|RP3-395M20.8_ENST00000416860.2_RNA|TNFRSF14_ENST00000409119.1_Missense_Mutation_p.R139C	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	139					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CGCCGCGTGCCGCGCTTACGC	0.701			"""Mis, N, F"""		follicular lymphoma																																	ENST00000355716.4				Rec	yes		1	1p36.32	8764	"""Mis, N, F"""	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			L			follicular lymphoma		0				kidney(1)	1						c.(415-417)Cgc>Tgc		tumor necrosis factor receptor superfamily, member 14							30.0	30.0	30.0					1																	2491372		2191	4295	6486	SO:0001583	missense	8764				immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity	g.chr1:2491372C>T	U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11912	protein-coding gene	gene with protein product	"""herpesvirus entry mediator"""	602746	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.415C>T	1.37:g.2491372C>T	ENSP00000347948:p.Arg139Cys					TNFRSF14_ENST00000409119.1_Missense_Mutation_p.R139C	p.R139C	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	4	714	+	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	139					B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	37	c.415C>T	CCDS44046.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538916	0.45176	.	.	ENSG00000157873	ENST00000426449;ENST00000434817;ENST00000435221;ENST00000451778;ENST00000409119;ENST00000355716	T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25	3.57	-3.94	0.04130	TNFR/CD27/30/40/95 cysteine-rich region (1);	.	.	.	.	T	0.53417	0.1795	L	0.55213	1.73	0.09310	N	1	D	0.89917	1.0	P	0.54544	0.755	T	0.47686	-0.9098	9	0.48119	T	0.1	-6.7885	0.5651	0.00686	0.1902:0.2025:0.3168:0.2904	.	139	Q92956	TNR14_HUMAN	C	139	ENSP00000411854:R139C;ENSP00000415254:R139C;ENSP00000399292:R139C;ENSP00000399533:R139C;ENSP00000386859:R139C;ENSP00000347948:R139C	ENSP00000347948:R139C	R	+	1	0	TNFRSF14	2483046	0.000000	0.05858	0.007000	0.13788	0.021000	0.10359	-0.163000	0.09997	-0.491000	0.06697	0.462000	0.41574	CGC		0.701	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1			16	7	0	0	0	1	0	16	7				
CYP4Z1	199974	broad.mit.edu	37	1	47583530	47583530	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:47583530G>T	ENST00000334194.3	+	12	1445	c.1442G>T	c.(1441-1443)aGg>aTg	p.R481M	CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	481						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GACCACTCAAGGCCTCCCCAG	0.453																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(1441-1443)aGg>aTg		cytochrome P450, family 4, subfamily Z, polypeptide 1							80.0	69.0	73.0					1																	47583530		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47583530G>T	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1442G>T	1.37:g.47583530G>T	ENSP00000334246:p.Arg481Met					CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	p.R481M	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			12	1445	+			481					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.1442G>T	CCDS545.1	.	.	.	.	.	.	.	.	.	.	g	15.42	2.828375	0.50845	.	.	ENSG00000186160	ENST00000334194	T	0.68765	-0.35	1.87	-1.33	0.09172	.	1.403590	0.05825	U	0.616394	T	0.69895	0.3162	L	0.31845	0.965	0.09310	N	1	D	0.76494	0.999	D	0.70935	0.971	T	0.59418	-0.7458	10	0.87932	D	0	.	6.2478	0.20830	0.7349:0.0:0.2651:0.0	.	481	Q86W10	CP4Z1_HUMAN	M	481	ENSP00000334246:R481M	ENSP00000334246:R481M	R	+	2	0	CYP4Z1	47356117	0.123000	0.22298	0.002000	0.10522	0.735000	0.41995	0.532000	0.23067	-0.212000	0.10109	0.271000	0.19318	AGG		0.453	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		15	41	1	0	8.60227e-14	1	9.58139e-14	15	41				
GPR61	83873	broad.mit.edu	37	1	110086714	110086714	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:110086714T>C	ENST00000527748.1	+	2	1753	c.1070T>C	c.(1069-1071)gTc>gCc	p.V357A	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	357						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAGCAGTTTGTCTGCTTCTTC	0.557																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(1069-1071)gTc>gCc		G protein-coupled receptor 61							69.0	75.0	73.0					1																	110086714		2203	4300	6503	SO:0001583	missense	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086714T>C	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1070T>C	1.37:g.110086714T>C	ENSP00000432456:p.Val357Ala						p.V357A	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1753	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	357					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.1070T>C	CCDS801.1	.	.	.	.	.	.	.	.	.	.	T	3.664	-0.068826	0.07228	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.36878	1.23	5.2	5.2	0.72013	.	0.239231	0.36972	N	0.002316	T	0.04998	0.0134	N	0.08118	0	0.32341	N	0.559721	B	0.09022	0.002	B	0.04013	0.001	T	0.35351	-0.9792	10	0.08599	T	0.76	-24.4342	4.3705	0.11246	0.0:0.1226:0.1955:0.6819	.	357	Q9BZJ8	GPR61_HUMAN	A	357;485	ENSP00000432456:V357A	ENSP00000286603:V485A	V	+	2	0	GPR61	109888237	0.406000	0.25344	1.000000	0.80357	0.998000	0.95712	1.093000	0.30939	2.189000	0.69895	0.533000	0.62120	GTC		0.557	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			36	47	0	0	0	1	0	36	47				
BMP3	651	broad.mit.edu	37	4	81967536	81967536	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr4:81967536T>C	ENST00000282701.2	+	2	1281	c.961T>C	c.(961-963)Tac>Cac	p.Y321H		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	321					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GAGAAAGCCTTACAAGACCCT	0.502																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(961-963)Tac>Cac		bone morphogenetic protein 3							39.0	44.0	42.0					4																	81967536		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967536T>C	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.961T>C	4.37:g.81967536T>C	ENSP00000282701:p.Tyr321His						p.Y321H	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	1281	+			321					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.961T>C	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.122625	0.56613	.	.	ENSG00000152785	ENST00000282701	T	0.76316	-1.01	5.16	5.16	0.70880	.	0.053231	0.85682	D	0.000000	D	0.87712	0.6246	M	0.79475	2.455	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	D	0.88920	0.3365	10	0.59425	D	0.04	.	14.9465	0.71035	0.0:0.0:0.0:1.0	.	321	P12645	BMP3_HUMAN	H	321	ENSP00000282701:Y321H	ENSP00000282701:Y321H	Y	+	1	0	BMP3	82186560	1.000000	0.71417	0.998000	0.56505	0.585000	0.36419	5.864000	0.69575	2.072000	0.62099	0.533000	0.62120	TAC		0.502	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			6	41	0	0	0	1	0	6	41				
DMP1	1758	broad.mit.edu	37	4	88578209	88578209	+	Missense_Mutation	SNP	C	C	T	rs138537025	byFrequency	TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr4:88578209C>T	ENST00000339673.6	+	3	179	c.80C>T	c.(79-81)tCt>tTt	p.S27F	RP11-742B18.1_ENST00000506814.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.S27F|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	27					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AATAATGAATCTGAGGATTCT	0.254																																						ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(79-81)tCt>tTt		dentin matrix acidic phosphoprotein 1		C	PHE/SER,PHE/SER	3,4383	6.2+/-15.9	0,3,2190	55.0	59.0	57.0		80,80	4.8	0.0	4	dbSNP_134	57	0,8586		0,0,4293	yes	missense,missense	DMP1	NM_001079911.2,NM_004407.3	155,155	0,3,6483	TT,TC,CC		0.0,0.0684,0.0231	possibly-damaging,possibly-damaging	27/498,27/514	88578209	3,12969	2193	4293	6486	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88578209C>T	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.80C>T	4.37:g.88578209C>T	ENSP00000340935:p.Ser27Phe					RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.S27F	p.S27F	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	3	179	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	27					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.80C>T	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990847	0.18966	6.84E-4	0.0	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.57907	0.37;0.37	5.67	4.81	0.61882	.	0.444231	0.21572	N	0.072382	T	0.59676	0.2211	L	0.50333	1.59	0.09310	N	1	D;D	0.54772	0.96;0.968	P;P	0.55161	0.66;0.77	T	0.55134	-0.8188	10	0.87932	D	0	-0.0129	11.7175	0.51661	0.1766:0.8234:0.0:0.0	.	27;27	Q13316-2;Q13316	.;DMP1_HUMAN	F	27	ENSP00000340935:S27F;ENSP00000282479:S27F	ENSP00000282479:S27F	S	+	2	0	DMP1	88797233	0.044000	0.20184	0.012000	0.15200	0.009000	0.06853	0.848000	0.27710	1.336000	0.45506	0.561000	0.74099	TCT		0.254	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			9	36	0	0	0	1	0	9	36				
HERC2P2	400322	broad.mit.edu	37	15	23300139	23300139	+	RNA	SNP	G	G	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr15:23300139G>C	ENST00000560464.1	-	0	4148									hect domain and RLD 2 pseudogene 2																		CGAAGGGTGAGTGGACTCCAC	0.602																																						ENST00000560464.1																			0																																																			400322							g.chr15:23300139G>C	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23300139G>C														0	4148	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.602	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			7	26	0	0	0	1	0	7	26				
HCG17	414778	broad.mit.edu	37	6	30227442	30227442	+	lincRNA	SNP	T	T	G			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr6:30227442T>G	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		CTGCTGCTCTTGGGGGCCCTG	0.706																																						ENST00000453558.1																			0																																																			414778							g.chr6:30227442T>G	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30227442T>G						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.706	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		3	33	0	0	0	1	0	3	33				
MCTP1	79772	broad.mit.edu	37	5	94043231	94043231	+	Silent	SNP	T	T	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr5:94043231T>A	ENST00000515393.1	-	23	2969	c.2970A>T	c.(2968-2970)ccA>ccT	p.P990P	MCTP1_ENST00000312216.8_Silent_p.P769P|MCTP1_ENST00000429576.2_Silent_p.P683P|MCTP1_ENST00000505078.1_Silent_p.P506P|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	990					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTCTTTTATATGGGCTATGAG	0.458																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2968-2970)ccA>ccT		multiple C2 domains, transmembrane 1							153.0	148.0	150.0					5																	94043231		2203	4300	6503	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94043231T>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2970A>T	5.37:g.94043231T>A						MCTP1_ENST00000312216.8_Silent_p.P769P|MCTP1_ENST00000514040.1_Intron|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000505078.1_Silent_p.P506P|MCTP1_ENST00000429576.2_Silent_p.P683P	p.P990P	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	23	2969	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	990					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.2970A>T	CCDS34203.1																																																																																				0.458	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		31	42	0	0	0	1	0	31	42				
CXCL1	2919	broad.mit.edu	37	4	74735639	74735639	+	Missense_Mutation	SNP	G	G	A	rs200169557		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr4:74735639G>A	ENST00000395761.3	+	3	308	c.241G>A	c.(241-243)Ggg>Agg	p.G81R	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	81					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			ACTCAAGAATGGGCGGAAAGC	0.567																																						ENST00000395761.3																			0				lung(2)	2						c.(241-243)Ggg>Agg		chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)							73.0	77.0	75.0					4																	74735639		2199	4300	6499	SO:0001583	missense	2919				actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity	g.chr4:74735639G>A	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"""Endogenous ligands"""	4602	protein-coding gene	gene with protein product		155730	"""GRO1 oncogene (melanoma growth stimulating activity, alpha)"", ""fibroblast secretory protein"""	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.241G>A	4.37:g.74735639G>A	ENSP00000379110:p.Gly81Arg					CXCL1_ENST00000509101.1_3'UTR	p.G81R	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		3	308	+	Breast(15;0.00102)		81					Q9UCR7	Missense_Mutation	SNP	ENST00000395761.3	37	c.241G>A	CCDS47074.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236115	0.79800	.	.	ENSG00000163739	ENST00000395761	T	0.08282	3.11	5.48	5.48	0.80851	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	H	0.94620	3.56	0.50313	D	0.999862	D	0.89917	1.0	D	0.97110	1.0	T	0.53450	-0.8437	10	0.87932	D	0	.	14.8518	0.70303	0.0:0.0:1.0:0.0	.	81	P09341	GROA_HUMAN	R	81	ENSP00000379110:G81R	ENSP00000379110:G81R	G	+	1	0	CXCL1	74954503	1.000000	0.71417	0.112000	0.21494	0.006000	0.05464	5.877000	0.69675	2.587000	0.87381	0.655000	0.94253	GGG		0.567	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1			30	63	0	0	0	1	0	30	63				
ARID2	196528	broad.mit.edu	37	12	46245684	46245684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:46245684G>T	ENST00000334344.6	+	15	3950	c.3778G>T	c.(3778-3780)Gaa>Taa	p.E1260*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.E870*|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Nonsense_Mutation_p.E1111*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1260					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACATGTTCATGAACGTAAAAT	0.433			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3778-3780)Gaa>Taa		AT rich interactive domain 2 (ARID, RFX-like)							70.0	65.0	66.0					12																	46245684		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245684G>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3778G>T	12.37:g.46245684G>T	ENSP00000335044:p.Glu1260*					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.E870*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.E1111*	p.E1260*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3950	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1260					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.3778G>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	44	10.755648	0.99462	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.1568	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	1260;377;377;1111;870	.	ENSP00000335044:E1260X	E	+	1	0	ARID2	44531951	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.188000	0.94921	2.941000	0.99782	0.655000	0.94253	GAA		0.433	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		22	54	1	0	1.55795e-14	1	1.7495e-14	22	54				
DNM1	1759	broad.mit.edu	37	9	130982551	130982551	+	Silent	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr9:130982551C>T	ENST00000372923.3	+	6	872	c.780C>T	c.(778-780)ctC>ctT	p.L260L	DNM1_ENST00000393594.3_Silent_p.L260L|DNM1_ENST00000475805.1_Silent_p.L260L|DNM1_ENST00000341179.7_Silent_p.L260L|DNM1_ENST00000486160.1_Silent_p.L260L	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	260	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGTTCTTCCTCTCCCATCCAT	0.567																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(778-780)ctC>ctT		dynamin 1							169.0	153.0	158.0					9																	130982551		2203	4300	6503	SO:0001819	synonymous_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130982551C>T	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.780C>T	9.37:g.130982551C>T						DNM1_ENST00000475805.1_Silent_p.L260L|DNM1_ENST00000486160.1_Silent_p.L260L|DNM1_ENST00000393594.3_Silent_p.L260L|DNM1_ENST00000372923.3_Silent_p.L260L	p.L260L	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			6	872	+			260					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.780C>T	CCDS6895.1																																																																																				0.567	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		88	101	0	0	0	1	0	88	101				
AGAP11	119385	broad.mit.edu	37	10	88768568	88768568	+	RNA	SNP	G	G	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:88768568G>C	ENST00000444431.1	+	0	3168				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GCCATCCCTAGCCACATCGGC	0.463																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							74.0	83.0	80.0					10																	88768568		2203	4296	6499			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768568G>C			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768568G>C						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	3168	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.463	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		58	103	0	0	0	1	0	58	103				
LPGAT1	9926	broad.mit.edu	37	1	211966515	211966515	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:211966515C>T	ENST00000366997.4	-	3	482	c.256G>A	c.(256-258)Gat>Aat	p.D86N	LPGAT1_ENST00000366996.1_Missense_Mutation_p.D86N|RN7SL344P_ENST00000485522.2_RNA	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	86					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GCTTTAATATCTTCTCCCCAT	0.348																																						ENST00000366997.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(256-258)Gat>Aat		lysophosphatidylglycerol acyltransferase 1							249.0	233.0	238.0					1																	211966515		2203	4300	6503	SO:0001583	missense	9926				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chr1:211966515C>T	D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.256G>A	1.37:g.211966515C>T	ENSP00000355964:p.Asp86Asn					LPGAT1_ENST00000366996.1_Missense_Mutation_p.D86N	p.D86N	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)	3	482	-			86					Q53YL2	Missense_Mutation	SNP	ENST00000366997.4	37	c.256G>A	CCDS31018.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413679	0.83449	.	.	ENSG00000123684	ENST00000366997;ENST00000366996	D;D	0.91686	-2.89;-2.89	5.44	5.44	0.79542	.	0.043510	0.85682	D	0.000000	D	0.89111	0.6622	L	0.45352	1.415	0.80722	D	1	B	0.29162	0.235	B	0.34824	0.19	D	0.85809	0.1378	10	0.32370	T	0.25	-19.7181	12.6519	0.56766	0.0:0.9246:0.0:0.0753	.	86	Q92604	LGAT1_HUMAN	N	86	ENSP00000355964:D86N;ENSP00000355963:D86N	ENSP00000355963:D86N	D	-	1	0	LPGAT1	210033138	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	5.412000	0.66392	2.586000	0.87340	0.556000	0.70494	GAT		0.348	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1	NM_014873		18	163	0	0	0	1	0	18	163				
QRICH2	84074	broad.mit.edu	37	17	74288000	74288000	+	Silent	SNP	G	G	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:74288000G>T	ENST00000262765.5	-	4	2489	c.2310C>A	c.(2308-2310)gcC>gcA	p.A770A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	770										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAAGAGGATAGGCACCAGGTT	0.517																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(2308-2310)gcC>gcA		glutamine rich 2							188.0	180.0	182.0					17																	74288000		2203	4300	6503	SO:0001819	synonymous_variant	84074						protein binding	g.chr17:74288000G>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2310C>A	17.37:g.74288000G>T							p.A770A	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	2489	-			770					A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	c.2310C>A	CCDS32741.1																																																																																				0.517	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		5	167	1	0	4.096e-09	1	4.41852e-09	5	167				
IGHV3-66	28412	broad.mit.edu	37	14	107131463	107131463	+	RNA	SNP	A	A	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr14:107131463A>C	ENST00000390632.2	-	0	97									immunoglobulin heavy variable 3-66																		AGGAAAACCCAGCTCAGCCCA	0.488																																						ENST00000390632.2																			0																				126.0	135.0	132.0					14																	107131463		1856	4101	5957			28412							g.chr14:107131463A>C	X92218		14q32.33	2012-02-08			ENSG00000211972	ENSG00000211972		"""Immunoglobulins / IGH locus"""	5619	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151880		14.37:g.107131463A>C														0	97	-									RNA	SNP	ENST00000390632.2	37																																																																																						0.488	IGHV3-66-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324225.1	NG_001019		56	144	0	0	0	1	0	56	144				
KCNQ5	56479	broad.mit.edu	37	6	73834251	73834251	+	Intron	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr6:73834251C>T	ENST00000370398.1	+	9	1356				KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000370392.1_Silent_p.L421L	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5						protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGATTTCTCTCTTGCTACATG	0.363																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000370392.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1261-1263)ctC>ctT		potassium voltage-gated channel, KQT-like subfamily, member 5							180.0	167.0	171.0					6																	73834251		2203	4300	6503	SO:0001627	intron_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73834251C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1247+16C>T	6.37:g.73834251C>T						KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000370398.1_Intron|KCNQ5_ENST00000403813.2_Intron	p.L421L			Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	9	1347	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	0					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	c.1263C>T	CCDS4976.1																																																																																				0.363	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		16	60	0	0	0	1	0	16	60				
LRP6	4040	broad.mit.edu	37	12	12397432	12397432	+	Missense_Mutation	SNP	G	G	T	rs145354281	byFrequency	TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:12397432G>T	ENST00000261349.4	-	2	289	c.213C>A	c.(211-213)agC>agA	p.S71R	LRP6_ENST00000543091.1_Missense_Mutation_p.S71R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	71	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGGCTTCTTCGCTGACATCAC	0.453																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(211-213)agC>agA		low density lipoprotein receptor-related protein 6							114.0	95.0	102.0					12																	12397432		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12397432G>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.213C>A	12.37:g.12397432G>T	ENSP00000261349:p.Ser71Arg					LRP6_ENST00000543091.1_Missense_Mutation_p.S71R	p.S71R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			2	289	-		Prostate(47;0.0865)	71			Beta-propeller 1.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.213C>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	g	14.87	2.665219	0.47677	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91124	-2.79;-2.79	5.04	-0.228	0.13098	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000007	D	0.92254	0.7543	M	0.72624	2.21	0.58432	D	0.999997	D;D	0.89917	1.0;0.961	D;P	0.69654	0.965;0.726	D	0.88524	0.3098	10	0.15499	T	0.54	.	10.7057	0.45954	0.4865:0.0:0.5135:0.0	.	71;71	F5H7J9;O75581	.;LRP6_HUMAN	R	71	ENSP00000261349:S71R;ENSP00000442472:S71R	ENSP00000261349:S71R	S	-	3	2	LRP6	12288699	0.988000	0.35896	0.999000	0.59377	0.988000	0.76386	0.172000	0.16704	0.056000	0.16144	-0.366000	0.07423	AGC		0.453	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			4	61	1	0	0.150653	1	0.151761	4	61				
AOC1	26	broad.mit.edu	37	7	150557702	150557702	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:150557702A>T	ENST00000493429.1	+	6	2554	c.1970A>T	c.(1969-1971)aAc>aTc	p.N657I	AOC1_ENST00000360937.4_Missense_Mutation_p.N657I|AOC1_ENST00000416793.2_Missense_Mutation_p.N676I|AOC1_ENST00000467291.1_Missense_Mutation_p.N657I|AOC1_ENST00000480582.1_3'UTR			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	657					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTTCACAACAACGAGAACATT	0.597																																						ENST00000493429.1																			0											c.(1969-1971)aAc>aTc		amine oxidase, copper containing 1							133.0	144.0	140.0					7																	150557702		2083	4223	6306	SO:0001583	missense	26							g.chr7:150557702A>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1970A>T	7.37:g.150557702A>T	ENSP00000418614:p.Asn657Ile					AOC1_ENST00000467291.1_Missense_Mutation_p.N657I|AOC1_ENST00000360937.4_Missense_Mutation_p.N657I|AOC1_ENST00000416793.2_Missense_Mutation_p.N676I|AOC1_ENST00000480582.1_3'UTR	p.N657I							6	2554	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1970A>T	CCDS43679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.02|17.02	3.282782|3.282782	0.59867|0.59867	.|.	.|.	ENSG00000002726|ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714|ENST00000487631	T;T;T;T|.	0.04603|.	3.59;3.59;3.59;3.59|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Copper amine oxidase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79323|0.79323	0.4426|0.4426	M|M	0.88906|0.88906	2.99|2.99	0.58432|0.58432	D|D	0.999996|0.999996	D;D|.	0.69078|.	0.996;0.997|.	D;D|.	0.70935|.	0.964;0.971|.	T|T	0.83068|0.83068	-0.0144|-0.0144	10|6	0.87932|0.62326	D|D	0|0.03	-28.8975|-28.8975	12.7556|12.7556	0.57333|0.57333	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	676;657|.	C9J690;P19801|.	.;ABP1_HUMAN|.	I|S	657;657;657;676;533|182	ENSP00000418614:N657I;ENSP00000418328:N657I;ENSP00000354193:N657I;ENSP00000411613:N676I|.	ENSP00000354193:N657I|ENSP00000417051:T182S	N|T	+|+	2|1	0|0	ABP1|ABP1	150188635|150188635	0.998000|0.998000	0.40836|0.40836	0.990000|0.990000	0.47175|0.47175	0.322000|0.322000	0.28314|0.28314	3.949000|3.949000	0.56668|0.56668	1.907000|1.907000	0.55213|0.55213	0.402000|0.402000	0.26972|0.26972	AAC|ACG		0.597	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		31	84	0	0	0	1	0	31	84				
KRTAP15-1	254950	broad.mit.edu	37	21	31812859	31812859	+	Nonsense_Mutation	SNP	C	C	T	rs145057150		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr21:31812859C>T	ENST00000334067.3	+	1	263	c.214C>T	c.(214-216)Cag>Tag	p.Q72*		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	72						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGATCCTATCAGACATCCTG	0.512																																						ENST00000334067.3																			0				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(214-216)Cag>Tag		keratin associated protein 15-1		T	stop/GLN	0,4406		0,0,2203	129.0	121.0	123.0		214	1.7	0.0	21	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	KRTAP15-1	NM_181623.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		72/138	31812859	1,13005	2203	4300	6503	SO:0001587	stop_gained	254950					intermediate filament		g.chr21:31812859C>T	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.214C>T	21.37:g.31812859C>T	ENSP00000334866:p.Gln72*						p.Q72*	NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN			1	263	+			72					Q2M3F4	Nonsense_Mutation	SNP	ENST00000334067.3	37	c.214C>T	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	c	12.97	2.096182	0.36952	0.0	1.16E-4	ENSG00000186970	ENST00000334067	.	.	.	4.48	1.73	0.24493	.	0.520885	0.15785	N	0.244732	.	.	.	.	.	.	0.43896	D	0.996525	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	1.6064	6.7226	0.23338	0.0:0.7104:0.0:0.2896	.	.	.	.	X	72	.	ENSP00000334866:Q72X	Q	+	1	0	KRTAP15-1	30734730	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.576000	0.23744	0.412000	0.25729	-0.119000	0.15052	CAG		0.512	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			47	85	0	0	0	1	0	47	85				
CFAP69	79846	broad.mit.edu	37	7	89937127	89937127	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:89937127G>A	ENST00000389297.4	+	21	2760	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	C7orf63_ENST00000316089.8_Missense_Mutation_p.E791K|C7orf63_ENST00000497910.1_Missense_Mutation_p.E819K	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		837										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TAAATCATGGGAAGATTTCTT	0.328																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(2509-2511)Gaa>Aaa		chromosome 7 open reading frame 63							66.0	65.0	66.0					7																	89937127		1841	4099	5940	SO:0001583	missense	79846						binding	g.chr7:89937127G>A																												ENST00000389297.4:c.2509G>A	7.37:g.89937127G>A	ENSP00000373948:p.Glu837Lys					C7orf63_ENST00000316089.8_Missense_Mutation_p.E791K|C7orf63_ENST00000497910.1_Missense_Mutation_p.E819K	p.E837K	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			21	2760	+			837					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.2509G>A	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.164447|4.164447	0.78339|0.78339	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577|ENST00000412839;ENST00000445156	T;T;T;T|.	0.25085|.	2.41;2.38;2.42;1.82|.	5.17|5.17	3.36|3.36	0.38483|0.38483	.|.	0.249891|.	0.38605|.	N|.	0.001632|.	T|T	0.66036|0.66036	0.2749|0.2749	M|M	0.76002|0.76002	2.32|2.32	0.38334|0.38334	D|D	0.94387|0.94387	B;B|.	0.22346|.	0.068;0.002|.	B;B|.	0.32980|.	0.156;0.009|.	T|T	0.66752|0.66752	-0.5844|-0.5844	10|5	0.59425|.	D|.	0.04|.	-11.6358|-11.6358	9.8415|9.8415	0.41002|0.41002	0.0765:0.1402:0.7832:0.0|0.0765:0.1402:0.7832:0.0	.|.	819;837|.	A5D8W1-5;A5D8W1|.	.;CG063_HUMAN|.	K|E	837;791;819;374|65;23	ENSP00000373948:E837K;ENSP00000321753:E791K;ENSP00000419549:E819K;ENSP00000391571:E374K|.	ENSP00000321753:E791K|.	E|G	+|+	1|2	0|0	C7orf63|C7orf63	89775063|89775063	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	1.511000|1.511000	0.35801|0.35801	0.570000|0.570000	0.29347|0.29347	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.328	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			15	35	0	0	0	1	0	15	35				
SPON1	10418	broad.mit.edu	37	11	14277196	14277196	+	RNA	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr11:14277196C>T	ENST00000310358.7	+	0	1631							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CTTGCAGTCACCCAACAAACC	0.473																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							99.0	105.0	103.0					11																	14277196		1834	4086	5920			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14277196C>T	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14277196C>T										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1631	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37			.	.	.	.	.	.	.	.	.	.	C	23.8	4.462037	0.84425	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.68	5.68	0.88126	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.75459	0.3852	.	.	.	0.58432	D	0.999992	D	0.71674	0.998	D	0.63488	0.915	T	0.71695	-0.4515	7	0.29301	T	0.29	.	17.2897	0.87152	0.0:1.0:0.0:0.0	.	366	Q9HCB6	SPON1_HUMAN	S	365	.	ENSP00000309297:P365S	P	+	1	0	SPON1	14233772	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.672000	0.61597	2.689000	0.91719	0.655000	0.94253	CCC		0.473	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		32	115	0	0	0	1	0	32	115				
COPRS	55352	broad.mit.edu	37	17	30179888	30179888	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:30179888C>A	ENST00000302362.6	-	3	465	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	COPRS_ENST00000378634.2_Missense_Mutation_p.D98Y	NM_018405.3	NP_060875.2	Q9NQ92	COPRS_HUMAN	coordinator of PRMT5, differentiation stimulator	110					histone H4-R3 methylation (GO:0043985)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone binding (GO:0042393)										TTAAAAAGATCGCCAGGCTGT	0.517																																						ENST00000378634.2																			0											c.(292-294)Gat>Tat		coordinator of PRMT5, differentiation stimulator							187.0	192.0	190.0					17																	30179888		2203	4300	6503	SO:0001583	missense	55352							g.chr17:30179888C>A	AJ272196	CCDS11268.1	17q11.2	2012-11-16	2012-11-16	2012-11-16	ENSG00000172301	ENSG00000172301			28848	protein-coding gene	gene with protein product	"""cooperator of PRMT5"""		"""chromosome 17 open reading frame 79"""	C17orf79		10843809, 18404153	Standard	NM_018405		Approved	TTP1, HSA272196, COPR5	uc002hgp.3	Q9NQ92	OTTHUMG00000132812	ENST00000302362.6:c.328G>T	17.37:g.30179888C>A	ENSP00000304327:p.Asp110Tyr					COPRS_ENST00000302362.6_Missense_Mutation_p.D110Y	p.D98Y							3	545	-								A6NP14|E1P656|Q96EF5|Q96P75	Missense_Mutation	SNP	ENST00000302362.6	37	c.292G>T	CCDS11268.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921476	0.52653	.	.	ENSG00000172301	ENST00000302362;ENST00000378634	T;T	0.48836	0.8;0.8	5.37	3.18	0.36537	.	0.519813	0.17535	N	0.170752	T	0.42743	0.1216	L	0.27053	0.805	0.09310	N	1	P	0.52577	0.954	P	0.52267	0.694	T	0.19095	-1.0316	10	0.66056	D	0.02	-6.1781	7.8111	0.29232	0.1854:0.6353:0.1793:0.0	.	110	Q9NQ92	COPR5_HUMAN	Y	110;98	ENSP00000304327:D110Y;ENSP00000367901:D98Y	ENSP00000304327:D110Y	D	-	1	0	C17orf79	27204001	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.187000	0.16998	1.192000	0.43071	0.467000	0.42956	GAT		0.517	COPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256257.2	NM_018405		64	194	1	0	2.18419e-29	1	2.53589e-29	64	194				
DBH	1621	broad.mit.edu	37	9	136508639	136508639	+	Silent	SNP	C	C	T	rs78200745		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr9:136508639C>T	ENST00000393056.2	+	4	861	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	283					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GCGGGCCCTGCGACTCCAAGA	0.662																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(847-849)tgC>tgT		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)	C		0,4406		0,0,2203	63.0	64.0	64.0		849	-4.6	0.9	9	dbSNP_131	64	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DBH	NM_000787.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		283/618	136508639	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136508639C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.849C>T	9.37:g.136508639C>T							p.C283C	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	4	861	+			283					Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.849C>T	CCDS6977.2																																																																																				0.662	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		28	114	0	0	0	1	0	28	114				
SLC16A9	220963	broad.mit.edu	37	10	61414210	61414210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:61414210G>A	ENST00000395348.3	-	5	1210	c.574C>T	c.(574-576)Caa>Taa	p.Q192*	SLC16A9_ENST00000395347.1_Nonsense_Mutation_p.Q192*	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	192					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TCAGAAGATTGGAGGGGTCTC	0.398																																						ENST00000395348.3																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						c.(574-576)Caa>Taa		solute carrier family 16, member 9							100.0	108.0	105.0					10																	61414210		2203	4300	6503	SO:0001587	stop_gained	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61414210G>A	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.574C>T	10.37:g.61414210G>A	ENSP00000378757:p.Gln192*					SLC16A9_ENST00000395347.1_Nonsense_Mutation_p.Q192*	p.Q192*	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN			5	1210	-			192					Q6ZMI2|Q9UFH8	Nonsense_Mutation	SNP	ENST00000395348.3	37	c.574C>T	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935764	0.73442	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	.	.	.	5.12	0.839	0.18907	.	0.528587	0.22513	N	0.059064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	12.9837	0.58579	0.0:0.4103:0.4968:0.0929	.	.	.	.	X	192	.	ENSP00000378756:Q192X	Q	-	1	0	SLC16A9	61084216	0.008000	0.16893	0.175000	0.22980	0.944000	0.59088	0.939000	0.28978	0.158000	0.19367	0.591000	0.81541	CAA		0.398	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		22	92	0	0	0	1	0	22	92				
ACACA	31	broad.mit.edu	37	17	35604999	35604999	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:35604999C>T	ENST00000394406.2	-	18	2324	c.2134G>A	c.(2134-2136)Ggt>Agt	p.G712S	ACACA_ENST00000353139.5_Missense_Mutation_p.G749S|ACACA_ENST00000335166.5_Missense_Mutation_p.G634S|ACACA_ENST00000360679.3_Missense_Mutation_p.G654S	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	712					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGCAGTCCACCGTCACTCAGC	0.473																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2245-2247)Ggt>Agt		acetyl-CoA carboxylase alpha	Biotin(DB00121)						180.0	140.0	153.0					17																	35604999		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35604999C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2134G>A	17.37:g.35604999C>T	ENSP00000377928:p.Gly712Ser					ACACA_ENST00000394406.2_Missense_Mutation_p.G712S|ACACA_ENST00000360679.3_Missense_Mutation_p.G654S|ACACA_ENST00000335166.5_Missense_Mutation_p.G634S	p.G749S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			18	2726	-		Breast(25;0.00157)|Ovarian(249;0.15)	712					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2245G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170449	0.94768	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.95853	-3.83;-3.81;-3.82;-3.8	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	P;P;D	0.65987	0.875;0.738;0.94	D	0.97081	0.9784	10	0.54805	T	0.06	-13.6728	17.5306	0.87813	0.0:1.0:0.0:0.0	.	749;712;654	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	S	749;654;712;736;634	ENSP00000344789:G749S;ENSP00000353898:G654S;ENSP00000377928:G712S;ENSP00000335323:G634S	ENSP00000335323:G634S	G	-	1	0	ACACA	32679112	1.000000	0.71417	0.881000	0.34555	0.596000	0.36781	7.609000	0.82925	2.620000	0.88729	0.655000	0.94253	GGT		0.473	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		9	59	0	0	0	1	0	9	59				
KAT7	11143	broad.mit.edu	37	17	47886546	47886546	+	Silent	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:47886546C>T	ENST00000259021.4	+	6	1009	c.729C>T	c.(727-729)aaC>aaT	p.N243N	KAT7_ENST00000435742.2_Intron|KAT7_ENST00000454930.2_Silent_p.N104N|KAT7_ENST00000424009.2_Intron|KAT7_ENST00000503935.2_Silent_p.N87N|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Intron	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	243					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AAGATGACAACAACAGGCATG	0.478																																						ENST00000503935.2																			0											c.(259-261)aaC>aaT		K(lysine) acetyltransferase 7							147.0	119.0	128.0					17																	47886546		2203	4300	6503	SO:0001819	synonymous_variant	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47886546C>T	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.729C>T	17.37:g.47886546C>T						KAT7_ENST00000435742.2_Intron|KAT7_ENST00000424009.2_Intron|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Intron|KAT7_ENST00000454930.2_Silent_p.N104N|KAT7_ENST00000259021.4_Silent_p.N243N	p.N87N			O95251	MYST2_HUMAN			6	1297	+			243					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Silent	SNP	ENST00000259021.4	37	c.261C>T	CCDS11554.1																																																																																				0.478	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		13	34	0	0	0	1	0	13	34				
UNC13A	23025	broad.mit.edu	37	19	17716877	17716877	+	Missense_Mutation	SNP	C	C	T	rs372747454		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr19:17716877C>T	ENST00000519716.2	-	44	5097	c.5098G>A	c.(5098-5100)Gcg>Acg	p.A1700T	UNC13A_ENST00000428389.2_Missense_Mutation_p.A1788T|UNC13A_ENST00000551649.1_Missense_Mutation_p.A1719T|UNC13A_ENST00000252773.7_Missense_Mutation_p.A1700T|UNC13A_ENST00000550896.1_Missense_Mutation_p.A1673T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A1694T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1700					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCGCAGGCGCGGCACCGCCC	0.736																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(5362-5364)Gcg>Acg		unc-13 homolog A (C. elegans)							7.0	7.0	7.0					19																	17716877		1787	3893	5680	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17716877C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.5098G>A	19.37:g.17716877C>T	ENSP00000429562:p.Ala1700Thr					UNC13A_ENST00000551649.1_Missense_Mutation_p.A1719T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A1694T|UNC13A_ENST00000252773.7_Missense_Mutation_p.A1700T|UNC13A_ENST00000550896.1_Missense_Mutation_p.A1673T|UNC13A_ENST00000519716.2_Missense_Mutation_p.A1700T	p.A1788T			Q9UPW8	UN13A_HUMAN			45	5361	-			1700					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.5362G>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027817	0.54790	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80653	-1.38;-1.4;-1.38;-1.26;-1.25;-1.37	3.14	0.913	0.19354	.	0.480009	0.16020	U	0.233366	T	0.62514	0.2434	N	0.19112	0.55	0.21740	N	0.999561	B	0.02656	0.0	B	0.01281	0.0	T	0.53592	-0.8417	10	0.72032	D	0.01	-14.2413	3.5537	0.07857	0.0:0.5333:0.2126:0.2541	.	1700	Q9UPW8	UN13A_HUMAN	T	1700;1788;1700;1719;1694;1673	ENSP00000429562:A1700T;ENSP00000400409:A1788T;ENSP00000252773:A1700T;ENSP00000447236:A1719T;ENSP00000447572:A1694T;ENSP00000446831:A1673T	ENSP00000252773:A1700T	A	-	1	0	UNC13A	17577877	0.822000	0.29219	0.992000	0.48379	0.778000	0.44026	0.834000	0.27518	0.186000	0.20125	0.306000	0.20318	GCG		0.736	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		9	6	0	0	0	1	0	9	6				
TGOLN2	10618	broad.mit.edu	37	2	85554304	85554304	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr2:85554304G>A	ENST00000409232.3	-	2	612	c.551C>T	c.(550-552)gCg>gTg	p.A184V	TGOLN2_ENST00000282120.2_Missense_Mutation_p.A86V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.A184V|TGOLN2_ENST00000377386.3_Missense_Mutation_p.A184V|TGOLN2_ENST00000444342.2_Missense_Mutation_p.A184V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.A184V			O43493	TGON2_HUMAN	trans-golgi network protein 2	184	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTGGCCGTCCGCACCCGACTT	0.587																																						ENST00000377386.3																			0											c.(550-552)gCg>gTg		trans-golgi network protein 2							296.0	297.0	297.0					2																	85554304		1924	4135	6059	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554304G>A	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.551C>T	2.37:g.85554304G>A	ENSP00000386443:p.Ala184Val					TGOLN2_ENST00000409232.3_Missense_Mutation_p.A184V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.A184V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.A184V|TGOLN2_ENST00000444342.2_Missense_Mutation_p.A184V|TGOLN2_ENST00000282120.2_Missense_Mutation_p.A86V	p.A184V			O43493	TGON2_HUMAN			2	1013	-			184			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.551C>T	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	G	6.724	0.502368	0.12822	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.12255	2.76;2.72;2.7;2.78;2.76;2.76	1.01	-2.02	0.07388	.	.	.	.	.	T	0.04861	0.0131	L	0.28115	0.83	0.09310	N	1	B;B;B;P	0.45126	0.064;0.016;0.001;0.851	B;B;B;B	0.24848	0.003;0.001;0.001;0.056	T	0.32322	-0.9911	9	0.29301	T	0.29	0.002	2.1751	0.03860	0.3002:0.0:0.4306:0.2691	.	184;184;184;184	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	V	184;86;184;184;184;184	ENSP00000366603:A184V;ENSP00000282120:A86V;ENSP00000381312:A184V;ENSP00000386443:A184V;ENSP00000387035:A184V;ENSP00000391190:A184V	ENSP00000282120:A86V	A	-	2	0	TGOLN2	85407815	0.004000	0.15560	0.000000	0.03702	0.056000	0.15407	1.176000	0.31957	-1.109000	0.02996	0.297000	0.19635	GCG		0.587	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		7	658	0	0	0	1	0	7	658				
PQLC2	54896	broad.mit.edu	37	1	19652808	19652808	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:19652808C>A	ENST00000375153.3	+	5	1092	c.452C>A	c.(451-453)gCt>gAt	p.A151D	PQLC2_ENST00000400548.2_Missense_Mutation_p.A86D|PQLC2_ENST00000375155.3_Missense_Mutation_p.A151D	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	151					amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGAGTGCTGCTGGGCCC	0.677																																						ENST00000375153.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(451-453)gCt>gAt		PQ loop repeat containing 2							47.0	36.0	40.0					1																	19652808		2203	4300	6503	SO:0001583	missense	54896					integral to membrane		g.chr1:19652808C>A	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.452C>A	1.37:g.19652808C>A	ENSP00000364295:p.Ala151Asp					PQLC2_ENST00000375155.3_Missense_Mutation_p.A151D|PQLC2_ENST00000400548.2_Missense_Mutation_p.A86D	p.A151D	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	1092	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	151					B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	ENST00000375153.3	37	c.452C>A	CCDS195.2	.	.	.	.	.	.	.	.	.	.	C	6.598	0.478642	0.12521	.	.	ENSG00000040487	ENST00000375155;ENST00000375153;ENST00000400548;ENST00000432465	T;T	0.47528	0.84;0.84	5.34	-3.71	0.04424	.	1.540940	0.02631	N	0.104274	T	0.23688	0.0573	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06445	-1.0826	10	0.13853	T	0.58	-0.5006	1.2544	0.01988	0.2082:0.345:0.2272:0.2196	.	151	Q6ZP29	PQLC2_HUMAN	D	151;151;86;56	ENSP00000364297:A151D;ENSP00000364295:A151D	ENSP00000364295:A151D	A	+	2	0	PQLC2	19525395	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.173000	0.09854	-0.302000	0.08869	-0.502000	0.04539	GCT		0.677	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765		3	34	1	0	1	1	1	3	34				
CYP2C8	1558	broad.mit.edu	37	10	96796914	96796914	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:96796914A>G	ENST00000371270.3	-	9	1538	c.1444T>C	c.(1444-1446)Tca>Cca	p.S482P	CYP2C8_ENST00000535898.1_Missense_Mutation_p.S380P	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	482					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	ATCTGGTATGAGGGTGGCAGA	0.418																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1444-1446)Tca>Cca		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						138.0	145.0	142.0					10																	96796914		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96796914A>G	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1444T>C	10.37:g.96796914A>G	ENSP00000360317:p.Ser482Pro					CYP2C8_ENST00000535898.1_Missense_Mutation_p.S380P	p.S482P	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	9	1538	-		Colorectal(252;0.0397)	482					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1444T>C	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	A	5.748	0.322347	0.10900	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898	T;T	0.10860	2.83;2.83	3.9	-6.52	0.01872	.	2.586750	0.01989	U	0.045419	T	0.02888	0.0086	N	0.02103	-0.685	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.34329	-0.9833	10	0.07030	T	0.85	.	3.9872	0.09521	0.3289:0.0:0.3803:0.2908	.	380;450;482	B7Z1F6;B7Z8S1;P10632	.;.;CP2C8_HUMAN	P	482;449;380	ENSP00000360317:S482P;ENSP00000445062:S380P	ENSP00000360317:S482P	S	-	1	0	CYP2C8	96786904	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.052000	0.03503	-1.404000	0.02050	0.477000	0.44152	TCA		0.418	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		3	47	0	0	0	1	0	3	47				
MUC6	4588	broad.mit.edu	37	11	1016697	1016697	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr11:1016697G>A	ENST00000421673.2	-	31	6154	c.6104C>T	c.(6103-6105)tCt>tTt	p.S2035F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2035	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGGAGGCAGAAGTGGCCAT	0.567																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6103-6105)tCt>tTt		mucin 6, oligomeric mucus/gel-forming							530.0	485.0	501.0					11																	1016697		2202	4293	6495	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016697G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6104C>T	11.37:g.1016697G>A	ENSP00000406861:p.Ser2035Phe						p.S2035F	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6154	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2035			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6104C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	5.582	0.292271	0.10567	.	.	ENSG00000184956	ENST00000421673	T	0.28666	1.6	1.19	0.19	0.15125	.	.	.	.	.	T	0.22704	0.0548	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22417	-1.0217	9	0.59425	D	0.04	.	6.3572	0.21408	0.2067:0.0:0.7933:0.0	.	2035	Q6W4X9	MUC6_HUMAN	F	2035	ENSP00000406861:S2035F	ENSP00000406861:S2035F	S	-	2	0	MUC6	1006697	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.188000	0.09642	-0.336000	0.08438	-1.786000	0.00637	TCT		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		72	516	0	0	0	1	0	72	516				
CYB5RL	606495	broad.mit.edu	37	1	54640384	54640384	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:54640384C>A	ENST00000534324.1	-	6	855	c.856G>T	c.(856-858)Gca>Tca	p.A286S	CYB5RL_ENST00000287899.8_Missense_Mutation_p.A218S|CYB5RL_ENST00000419823.2_Missense_Mutation_p.A286S|CYB5RL_ENST00000542737.1_Missense_Mutation_p.A286S|AL357673.1_ENST00000536061.1_5'Flank|RP11-446E24.4_ENST00000525949.1_5'Flank|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000401046.3_Missense_Mutation_p.A138S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.A218S			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	286							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.A286T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CAGACCAGTGCGAATGGCTTT	0.552																																						ENST00000419823.2																			1	Substitution - Missense(1)	p.A286T(1)	large_intestine(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						c.(856-858)Gca>Tca		cytochrome b5 reductase-like							39.0	41.0	40.0					1																	54640384		1956	4175	6131	SO:0001583	missense	606495						cytochrome-b5 reductase activity	g.chr1:54640384C>A		CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.856G>T	1.37:g.54640384C>A	ENSP00000434343:p.Ala286Ser					CYB5RL_ENST00000401046.3_Missense_Mutation_p.A138S|CYB5RL_ENST00000542737.1_Missense_Mutation_p.A286S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.A218S|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000534324.1_Missense_Mutation_p.A286S|CYB5RL_ENST00000287899.8_Missense_Mutation_p.A218S	p.A286S	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN			7	1080	-			286					B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	c.856G>T	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562631	0.45694	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-1.99;-2.28;-1.99	5.14	4.22	0.49857	Oxidoreductase FAD/NAD(P)-binding (1);	0.406939	0.17610	U	0.168135	T	0.82070	0.4957	L	0.43923	1.385	0.25058	N	0.991088	P;P	0.44521	0.837;0.612	B;B	0.39904	0.313;0.287	T	0.75249	-0.3384	10	0.59425	D	0.04	-25.7752	11.1905	0.48681	0.0:0.9143:0.0:0.0857	.	286;138	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	S	286;138;286;218;286;218	ENSP00000409075:A286S;ENSP00000383825:A138S;ENSP00000434343:A286S;ENSP00000287899:A218S;ENSP00000438151:A286S;ENSP00000443797:A218S	ENSP00000287899:A218S	A	-	1	0	CYB5RL	54412972	1.000000	0.71417	0.479000	0.27329	0.534000	0.34807	3.607000	0.54102	1.369000	0.46134	0.555000	0.69702	GCA		0.552	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672		9	26	1	0	3.86212e-05	1	4.00841e-05	9	26				
ABCC12	94160	broad.mit.edu	37	16	48174625	48174625	+	Silent	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr16:48174625C>T	ENST00000311303.3	-	4	975	c.630G>A	c.(628-630)aaG>aaA	p.K210K	ABCC12_ENST00000448542.1_Silent_p.K210K|ABCC12_ENST00000416054.1_Silent_p.K210K	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	210	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGGTCAATGTCTTGAAGGACA	0.517																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(628-630)aaG>aaA		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							122.0	126.0	125.0					16																	48174625		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48174625C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.630G>A	16.37:g.48174625C>T						ABCC12_ENST00000448542.1_Silent_p.K210K|ABCC12_ENST00000416054.1_Silent_p.K210K	p.K210K	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			4	975	-		all_cancers(37;0.0474)|all_lung(18;0.047)	210			ABC transmembrane type-1 1.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.630G>A	CCDS10730.1																																																																																				0.517	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		72	167	0	0	0	1	0	72	167				
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	byFrequency	TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:145296403C>T	ENST00000342960.5	+	3	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	109						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(325-327)Cta>Tta		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145296403C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.325C>T	1.37:g.145296403C>T						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L109L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	360	+	all_hematologic(923;0.032)		109					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.325C>T	CCDS53355.1																																																																																				0.517	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	304	0	0	0	1	0	5	304				
SLC4A4	8671	broad.mit.edu	37	4	72332273	72332273	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr4:72332273G>T	ENST00000264485.5	+	13	1727	c.1610G>T	c.(1609-1611)aGg>aTg	p.R537M	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Missense_Mutation_p.R493M|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R537M|SLC4A4_ENST00000512686.1_Missense_Mutation_p.R493M|SLC4A4_ENST00000351898.6_Missense_Mutation_p.R537M	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	537					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GTTTTTGAGAGGCTTCTATTT	0.393																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1477-1479)aGg>aTg		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							124.0	118.0	120.0					4																	72332273		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72332273G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1610G>T	4.37:g.72332273G>T	ENSP00000264485:p.Arg537Met					SLC4A4_ENST00000264485.5_Missense_Mutation_p.R537M|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.R493M|SLC4A4_ENST00000351898.6_Missense_Mutation_p.R537M|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R537M	p.R493M	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		10	1674	+			537					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1478G>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743243	0.89663	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.82	5.82	0.92795	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89969	0.6869	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;0.995;1.0;1.0;0.985	D;D;D;D;D;D	0.79108	0.967;0.946;0.944;0.991;0.992;0.95	D	0.89535	0.3788	10	0.56958	D	0.05	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	537;537;493;493;517;537	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	M	537;537;537;493;493	ENSP00000264485:R537M;ENSP00000393557:R537M;ENSP00000307349:R537M;ENSP00000422400:R493M;ENSP00000344272:R493M	ENSP00000264485:R537M	R	+	2	0	SLC4A4	72551137	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.972000	0.88022	2.756000	0.94617	0.563000	0.77884	AGG		0.393	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		23	51	1	0	2.70639e-06	1	2.87423e-06	23	51				
AK5	26289	broad.mit.edu	37	1	77752791	77752791	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:77752791C>T	ENST00000354567.2	+	2	489	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	AK5_ENST00000344720.5_Missense_Mutation_p.R50W|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	76					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGGACAGTCACGGAGATCCTT	0.368																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(148-150)Cgg>Tgg		adenylate kinase 5							74.0	72.0	73.0					1																	77752791		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77752791C>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.226C>T	1.37:g.77752791C>T	ENSP00000346577:p.Arg76Trp					AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.R76W	p.R50W	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			2	1174	+			76					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.148C>T	CCDS675.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803367	0.70682	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.84516	-0.71;-0.76;-1.86	5.59	3.59	0.41128	.	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.69654	0.965;0.893	D	0.86661	0.1904	10	0.87932	D	0	-0.7307	14.4847	0.67609	0.4196:0.5804:0.0:0.0	.	76;76	Q9Y6K8;Q8N291	KAD5_HUMAN;.	W	76;50;50	ENSP00000346577:R76W;ENSP00000341430:R50W;ENSP00000434409:R50W	ENSP00000341430:R50W	R	+	1	2	AK5	77525379	0.898000	0.30612	0.997000	0.53966	0.926000	0.56050	1.838000	0.39211	1.495000	0.48549	0.650000	0.86243	CGG		0.368	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		18	50	0	0	0	1	0	18	50				
BCORL1	63035	broad.mit.edu	37	X	129171430	129171430	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chrX:129171430C>T	ENST00000218147.7	+	9	4591	c.4394C>T	c.(4393-4395)tCc>tTc	p.S1465F	BCORL1_ENST00000359304.2_Missense_Mutation_p.S1335F|BCORL1_ENST00000303743.5_Missense_Mutation_p.S1539F|BCORL1_ENST00000540052.1_Missense_Mutation_p.S1465F			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1465					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAGGCTTGTTCCCGGGGCTGG	0.592																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4393-4395)tCc>tTc		BCL6 corepressor-like 1							129.0	96.0	107.0					X																	129171430		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129171430C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4394C>T	X.37:g.129171430C>T	ENSP00000218147:p.Ser1465Phe					BCORL1_ENST00000303743.5_Missense_Mutation_p.S1539F|BCORL1_ENST00000218147.7_Missense_Mutation_p.S1465F|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1335F	p.S1465F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			8	4438	+			1465					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4394C>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329931	0.81690	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.66099	-0.19;-0.18;-0.18;-0.19;-0.18	5.69	5.69	0.88448	Ankyrin repeat-containing domain (4);	0.000000	0.32258	N	0.006359	T	0.69043	0.3067	N	0.21583	0.68	0.41340	D	0.987297	D;D	0.71674	0.998;0.994	D;D	0.67725	0.935;0.953	T	0.73905	-0.3835	10	0.87932	D	0	-14.9112	18.8292	0.92130	0.0:1.0:0.0:0.0	.	1539;1465	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	F	1465;1539;1335;1465;1139	ENSP00000218147:S1465F;ENSP00000307541:S1539F;ENSP00000352253:S1335F;ENSP00000437775:S1465F;ENSP00000399483:S1139F	ENSP00000218147:S1465F	S	+	2	0	BCORL1	128999111	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	7.485000	0.81204	2.392000	0.81423	0.600000	0.82982	TCC		0.592	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		35	31	0	0	0	1	0	35	31				
SLC25A17	10478	broad.mit.edu	37	22	41169986	41169986	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr22:41169986A>G	ENST00000435456.2	-	8	864	c.731T>C	c.(730-732)tTg>tCg	p.L244S	SLC25A17_ENST00000402844.3_Missense_Mutation_p.L162S|SLC25A17_ENST00000542412.1_Missense_Mutation_p.L171S|SLC25A17_ENST00000544408.1_Missense_Mutation_p.L207S|SLC25A17_ENST00000491545.1_5'UTR	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	244	Necessary for targeting to peroxisomes and interaction with PEX19.				ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						AAGACTTCCCAATGTTCTGTT	0.413																																						ENST00000402844.3																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						c.(484-486)tTg>tCg		solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17							120.0	111.0	114.0					22																	41169986		2203	4300	6503	SO:0001583	missense	10478				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	g.chr22:41169986A>G	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.731T>C	22.37:g.41169986A>G	ENSP00000390722:p.Leu244Ser					SLC25A17_ENST00000542412.1_Missense_Mutation_p.L171S|SLC25A17_ENST00000435456.2_Missense_Mutation_p.L244S|SLC25A17_ENST00000544408.1_Missense_Mutation_p.L207S|SLC25A17_ENST00000491545.1_5'UTR	p.L162S			O43808	PM34_HUMAN			4	1465	-			244					A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	ENST00000435456.2	37	c.485T>C	CCDS14005.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.728347	0.30593	.	.	ENSG00000100372	ENST00000435456;ENST00000402844;ENST00000544408;ENST00000542412	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	6.02	6.02	0.97574	Mitochondrial carrier domain (2);	0.232978	0.40302	N	0.001125	T	0.60625	0.2283	N	0.04724	-0.175	0.80722	D	1	B;B;B	0.26708	0.157;0.075;0.045	B;B;B	0.32090	0.047;0.046;0.14	T	0.59721	-0.7401	10	0.09338	T	0.73	-15.6819	16.5494	0.84464	1.0:0.0:0.0:0.0	.	171;207;244	F5GYD1;B4DU97;O43808	.;.;PM34_HUMAN	S	244;162;207;171	ENSP00000390722:L244S;ENSP00000385303:L162S;ENSP00000438355:L207S;ENSP00000446471:L171S	ENSP00000385303:L162S	L	-	2	0	SLC25A17	39499932	1.000000	0.71417	0.917000	0.36280	0.051000	0.14879	7.226000	0.78060	2.299000	0.77371	0.528000	0.53228	TTG		0.413	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358		11	46	0	0	0	1	0	11	46				
OR2M5	127059	broad.mit.edu	37	1	248308937	248308937	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:248308937C>T	ENST00000366476.1	+	1	488	c.488C>T	c.(487-489)aCa>aTa	p.T163I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			GCTGTAGCGACATTTTCCTTC	0.443																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(487-489)aCa>aTa		olfactory receptor, family 2, subfamily M, member 5							277.0	261.0	267.0					1																	248308937		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308937C>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.488C>T	1.37:g.248308937C>T	ENSP00000355432:p.Thr163Ile						p.T163I	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	488	+	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)		163						Missense_Mutation	SNP	ENST00000366476.1	37	c.488C>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	12.24	1.878009	0.33162	.	.	ENSG00000162727	ENST00000366476	T	0.00258	8.41	3.28	-0.591	0.11675	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32970	U	0.005422	T	0.00144	0.0004	L	0.48174	1.505	0.09310	N	1	B	0.12013	0.005	B	0.21360	0.034	T	0.36817	-0.9732	10	0.48119	T	0.1	.	7.7286	0.28773	0.0:0.4973:0.0:0.5027	.	163	A3KFT3	OR2M5_HUMAN	I	163	ENSP00000355432:T163I	ENSP00000355432:T163I	T	+	2	0	OR2M5	246375560	0.000000	0.05858	0.000000	0.03702	0.600000	0.36913	-0.021000	0.12504	0.053000	0.16036	0.492000	0.49549	ACA		0.443	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		84	223	0	0	0	1	0	84	223				
FKBP10	60681	broad.mit.edu	37	17	39974425	39974425	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:39974425G>A	ENST00000321562.4	+	3	580	c.476G>A	c.(475-477)aGc>aAc	p.S159N	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	159					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GTGCAGGTGAGCACATTGCTG	0.622																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(475-477)aGc>aAc		FK506 binding protein 10, 65 kDa							66.0	61.0	63.0					17																	39974425		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39974425G>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.476G>A	17.37:g.39974425G>A	ENSP00000317232:p.Ser159Asn						p.S159N	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	3	580	+		Breast(137;0.00122)	159					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.476G>A	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360920	0.24684	.	.	ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352	T	0.55052	0.54	5.53	-0.725	0.11174	.	0.616130	0.16021	N	0.233302	T	0.27900	0.0687	N	0.14661	0.345	0.53688	D	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.05784	-1.0864	10	0.20046	T	0.44	-1.8885	6.9427	0.24502	0.2664:0.4603:0.2733:0.0	.	159	Q96AY3	FKB10_HUMAN	N	159	ENSP00000317232:S159N	ENSP00000269598:S159N	S	+	2	0	FKBP10	37227951	0.989000	0.36119	1.000000	0.80357	0.701000	0.40568	0.520000	0.22878	0.280000	0.22209	-0.258000	0.10820	AGC		0.622	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		8	40	0	0	0	1	0	8	40				
PPFIA2	8499	broad.mit.edu	37	12	81732999	81732999	+	Silent	SNP	A	A	G			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:81732999A>G	ENST00000549396.1	-	21	2668	c.2508T>C	c.(2506-2508)cgT>cgC	p.R836R	PPFIA2_ENST00000548586.1_Silent_p.R836R|PPFIA2_ENST00000407050.4_Silent_p.R762R|PPFIA2_ENST00000549325.1_Silent_p.R818R|PPFIA2_ENST00000443686.3_Silent_p.R737R|PPFIA2_ENST00000541570.2_Silent_p.R403R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.R683R|PPFIA2_ENST00000550584.2_Silent_p.R836R|PPFIA2_ENST00000333447.7_Silent_p.R818R|PPFIA2_ENST00000541017.1_Silent_p.R53R|PPFIA2_ENST00000552948.1_Silent_p.R836R	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	836					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TACCAAACAAACGTCCTATTG	0.458																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2506-2508)cgT>cgC		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							192.0	188.0	189.0					12																	81732999		1856	4102	5958	SO:0001819	synonymous_variant	8499							g.chr12:81732999A>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2508T>C	12.37:g.81732999A>G						PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Silent_p.R818R|PPFIA2_ENST00000443686.3_Silent_p.R737R|PPFIA2_ENST00000407050.4_Silent_p.R762R|PPFIA2_ENST00000541017.1_Silent_p.R53R|PPFIA2_ENST00000541570.2_Silent_p.R403R|PPFIA2_ENST00000549396.1_Silent_p.R836R|PPFIA2_ENST00000548586.1_Silent_p.R836R|PPFIA2_ENST00000552948.1_Silent_p.R836R|PPFIA2_ENST00000333447.7_Silent_p.R818R|PPFIA2_ENST00000550359.2_Silent_p.R683R	p.R836R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			20	2803	-			762					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.2508T>C	CCDS55857.1																																																																																				0.458	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			30	99	0	0	0	1	0	30	99				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	68	0	0	0	1	0	4	68				
TEKT1	83659	broad.mit.edu	37	17	6704223	6704223	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:6704223C>T	ENST00000338694.2	-	7	1021	c.892G>A	c.(892-894)Gct>Act	p.A298T	TEKT1_ENST00000535086.1_Missense_Mutation_p.A152T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	298						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTTTCAAGAGCTGTAATATTT	0.512																																						ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(892-894)Gct>Act		tektin 1							131.0	134.0	133.0					17																	6704223		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6704223C>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.892G>A	17.37:g.6704223C>T	ENSP00000341346:p.Ala298Thr					TEKT1_ENST00000535086.1_Missense_Mutation_p.A152T	p.A298T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			7	1021	-		Myeloproliferative disorder(207;0.0255)	298					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.892G>A	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695084	0.30052	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02525	4.26;4.26	5.85	-0.998	0.10212	.	0.819688	0.11454	N	0.562468	T	0.02047	0.0064	L	0.38838	1.175	0.09310	N	1	B	0.19073	0.033	B	0.22386	0.039	T	0.49322	-0.8952	10	0.13108	T	0.6	.	1.9438	0.03352	0.1267:0.3949:0.124:0.3544	.	298	Q969V4	TEKT1_HUMAN	T	298;152	ENSP00000341346:A298T;ENSP00000444142:A152T	ENSP00000341346:A298T	A	-	1	0	TEKT1	6644947	0.002000	0.14202	0.001000	0.08648	0.963000	0.63663	0.493000	0.22451	-0.040000	0.13580	0.655000	0.94253	GCT		0.512	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		16	109	0	0	0	1	0	16	109				
DLX5	1749	broad.mit.edu	37	7	96651526	96651526	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:96651526C>T	ENST00000222598.4	-	2	984	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	DLX5_ENST00000486603.2_Missense_Mutation_p.A171T|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	171					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AGCGAGGCGGCCAGCTCGGCG	0.567																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(511-513)Gcc>Acc		distal-less homeobox 5							94.0	95.0	94.0					7																	96651526		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96651526C>T		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.511G>A	7.37:g.96651526C>T	ENSP00000222598:p.Ala171Thr					DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.A171T	p.A171T	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			2	984	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		171					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.511G>A	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	36	5.884006	0.97062	.	.	ENSG00000105880	ENST00000222598	D	0.98164	-4.76	5.41	5.41	0.78517	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99354	0.9773	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.91635	0.999;0.982	D	0.98715	1.0706	10	0.87932	D	0	-9.2252	18.9868	0.92773	0.0:1.0:0.0:0.0	.	171;171	B7Z4P3;P56178	.;DLX5_HUMAN	T	171	ENSP00000222598:A171T	ENSP00000222598:A171T	A	-	1	0	DLX5	96489462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.582000	0.82546	2.816000	0.96949	0.563000	0.77884	GCC		0.567	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			26	98	0	0	0	1	0	26	98				
XPR1	9213	broad.mit.edu	37	1	180772700	180772700	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:180772700G>A	ENST00000367590.4	+	4	598	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	XPR1_ENST00000367589.3_Missense_Mutation_p.A134T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	134	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCTTAAACTGGCCTTCAGTGA	0.423																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(400-402)Gcc>Acc		xenotropic and polytropic retrovirus receptor 1							126.0	129.0	128.0					1																	180772700		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180772700G>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.400G>A	1.37:g.180772700G>A	ENSP00000356562:p.Ala134Thr					XPR1_ENST00000367589.3_Missense_Mutation_p.A134T	p.A134T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			4	598	+			134			SPX.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.400G>A	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	36	5.599439	0.96614	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.54675	0.56	5.93	5.93	0.95920	SPX, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.81758	0.4890	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.85861	0.1410	10	0.87932	D	0	-8.6733	19.9446	0.97177	0.0:0.0:1.0:0.0	.	134;134	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	T	134	ENSP00000356562:A134T	ENSP00000356561:A134T	A	+	1	0	XPR1	179039323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.338000	0.96553	2.814000	0.96858	0.591000	0.81541	GCC		0.423	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		28	83	0	0	0	1	0	28	83				
DNAH11	8701	broad.mit.edu	37	7	21781651	21781651	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:21781651C>T	ENST00000409508.3	+	49	8052	c.8021C>T	c.(8020-8022)tCa>tTa	p.S2674L	DNAH11_ENST00000328843.6_Missense_Mutation_p.S2681L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2681	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTGCTCCATCAATTCTCAGG	0.408									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(8041-8043)tCa>tTa		dynein, axonemal, heavy chain 11							123.0	118.0	119.0					7																	21781651		1898	4139	6037	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21781651C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8021C>T	7.37:g.21781651C>T	ENSP00000475939:p.Ser2674Leu					DNAH11_ENST00000409508.3_Missense_Mutation_p.S2674L	p.S2681L			Q96DT5	DYH11_HUMAN			50	8073	+			2681			AAA 3 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.8042C>T		.	.	.	.	.	.	.	.	.	.	C	7.755	0.704228	0.15172	.	.	ENSG00000105877	ENST00000328843	T	0.38560	1.13	5.47	4.57	0.56435	.	0.670161	0.14904	N	0.291641	T	0.35364	0.0929	.	.	.	0.09310	N	1	B	0.16166	0.016	B	0.16722	0.016	T	0.18178	-1.0345	9	0.45353	T	0.12	.	15.1626	0.72795	0.0:0.9287:0.0:0.0713	.	2681	Q96DT5	DYH11_HUMAN	L	2681	ENSP00000330671:S2681L	ENSP00000330671:S2681L	S	+	2	0	DNAH11	21748176	0.011000	0.17503	0.105000	0.21289	0.078000	0.17371	2.265000	0.43311	2.723000	0.93209	0.655000	0.94253	TCA		0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		24	44	0	0	0	1	0	24	44				
TRIP11	9321	broad.mit.edu	37	14	92474060	92474060	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr14:92474060T>C	ENST00000267622.4	-	10	1824	c.1451A>G	c.(1450-1452)aAt>aGt	p.N484S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	484					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AATACTCTGATTGAGTTCTTG	0.328			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1450-1452)aAt>aGt		thyroid hormone receptor interactor 11							165.0	156.0	159.0					14																	92474060		2202	4300	6502	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92474060T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1451A>G	14.37:g.92474060T>C	ENSP00000267622:p.Asn484Ser						p.N484S	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	10	1824	-			484					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.1451A>G	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.388912	0.25118	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.63744	-0.06	6.04	2.38	0.29361	.	0.389945	0.31936	N	0.006829	T	0.46483	0.1395	L	0.45581	1.43	0.20926	N	0.99982	B;B	0.19331	0.023;0.035	B;B	0.15052	0.012;0.009	T	0.27739	-1.0065	10	0.11485	T	0.65	.	6.5364	0.22357	0.116:0.1266:0.0:0.7573	.	220;484	F5H1Z0;Q15643	.;TRIPB_HUMAN	S	484;220	ENSP00000267622:N484S	ENSP00000267622:N484S	N	-	2	0	TRIP11	91543813	1.000000	0.71417	0.818000	0.32626	0.554000	0.35429	1.283000	0.33237	0.165000	0.19558	0.459000	0.35465	AAT		0.328	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			23	44	0	0	0	1	0	23	44				
KIAA1244	57221	broad.mit.edu	37	6	138657566	138657566	+	Silent	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr6:138657566C>T	ENST00000251691.4	+	34	6643	c.6477C>T	c.(6475-6477)cgC>cgT	p.R2159R		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCAGAGTTCGCCAGGCTGTGA	0.572																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(6475-6477)cgC>cgT		KIAA1244							112.0	99.0	103.0					6																	138657566		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138657566C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6477C>T	6.37:g.138657566C>T							p.R2159R	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	34	6643	+	Breast(32;0.135)		2159						Silent	SNP	ENST00000251691.4	37	c.6477C>T	CCDS5189.2																																																																																				0.572	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		54	68	0	0	0	1	0	54	68				
ANXA1	301	broad.mit.edu	37	9	75775728	75775728	+	Missense_Mutation	SNP	A	A	G	rs543730068		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr9:75775728A>G	ENST00000376911.1	+	5	1276	c.394A>G	c.(394-396)Act>Gct	p.T132A	ANXA1_ENST00000257497.6_Missense_Mutation_p.T132A			P04083	ANXA1_HUMAN	annexin A1	132					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	GGGCCTTGGAACTGATGAAGA	0.348													A|||	1	0.000199681	0.0	0.0	5008	,	,		17281	0.0		0.0	False		,,,				2504	0.001					ENST00000376911.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.(394-396)Act>Gct		annexin A1	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						149.0	158.0	155.0					9																	75775728		2203	4299	6502	SO:0001583	missense	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75775728A>G	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.394A>G	9.37:g.75775728A>G	ENSP00000366109:p.Thr132Ala					ANXA1_ENST00000257497.6_Missense_Mutation_p.T132A	p.T132A			P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	5	1276	+		all_epithelial(88;2.54e-11)	132						Missense_Mutation	SNP	ENST00000376911.1	37	c.394A>G	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843373	0.91197	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	T;T;T	0.06218	3.33;3.33;3.33	5.86	5.86	0.93980	Annexin repeat, conserved site (1);	0.044737	0.85682	D	0.000000	T	0.36880	0.0983	H	0.94503	3.545	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.52177	-0.8610	10	0.87932	D	0	.	16.2565	0.82519	1.0:0.0:0.0:0.0	.	132	P04083	ANXA1_HUMAN	A	132;143;132	ENSP00000257497:T132A;ENSP00000412489:T143A;ENSP00000366109:T132A	ENSP00000257497:T132A	T	+	1	0	ANXA1	74965548	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.466000	0.90387	2.235000	0.73313	0.533000	0.62120	ACT		0.348	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		23	110	0	0	0	1	0	23	110				
CCDC102A	92922	broad.mit.edu	37	16	57559864	57559864	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr16:57559864G>C	ENST00000258214.2	-	3	1007	c.761C>G	c.(760-762)gCc>gGc	p.A254G		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	254										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TAGCCGCAGGGCGGTCAACTT	0.721																																						ENST00000258214.2																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(760-762)gCc>gGc		coiled-coil domain containing 102A							35.0	31.0	32.0					16																	57559864		2198	4300	6498	SO:0001583	missense	92922							g.chr16:57559864G>C	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.761C>G	16.37:g.57559864G>C	ENSP00000258214:p.Ala254Gly						p.A254G	NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN			3	1007	-			254					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.761C>G	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133288	0.77662	.	.	ENSG00000135736	ENST00000258214	T	0.50277	0.75	5.15	4.17	0.49024	.	0.122857	0.52532	D	0.000066	T	0.49012	0.1532	M	0.69823	2.125	0.58432	D	0.999996	D	0.55605	0.972	P	0.44561	0.453	T	0.50693	-0.8798	10	0.30854	T	0.27	-20.3272	13.7972	0.63177	0.0788:0.0:0.9212:0.0	.	254	Q96A19	C102A_HUMAN	G	254	ENSP00000258214:A254G	ENSP00000258214:A254G	A	-	2	0	CCDC102A	56117365	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	7.573000	0.82421	2.573000	0.86826	0.467000	0.42956	GCC		0.721	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		9	27	0	0	0	1	0	9	27				
HOXB5	3215	broad.mit.edu	37	17	46670537	46670537	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:46670537C>T	ENST00000239151.5	-	1	786	c.508G>A	c.(508-510)Gag>Aag	p.E170K	HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000472863.1_5'Flank|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000476342.1_5'Flank|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB3_ENST00000498678.1_5'Flank|HOXB3_ENST00000460160.1_5'Flank|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000487849.3_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	170					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	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)			large_intestine(1)|lung(2)	3						GTCTGCCCCTCGGGCGCGGCT	0.607																																						ENST00000239151.5																			0				large_intestine(1)|lung(2)	3						c.(508-510)Gag>Aag		homeobox B5							37.0	42.0	40.0					17																	46670537		2203	4299	6502	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46670537C>T		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.508G>A	17.37:g.46670537C>T	ENSP00000239151:p.Glu170Lys					HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA	p.E170K	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN			1	786	-			170					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.508G>A	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522147	0.44866	.	.	ENSG00000120075	ENST00000239151	D	0.91843	-2.92	5.31	4.34	0.51931	.	0.105910	0.64402	D	0.000006	D	0.87767	0.6260	L	0.50333	1.59	0.41794	D	0.989887	B	0.33857	0.429	B	0.27170	0.077	D	0.85082	0.0946	10	0.28530	T	0.3	.	13.4791	0.61326	0.0:0.9232:0.0:0.0768	.	170	P09067	HXB5_HUMAN	K	170	ENSP00000239151:E170K	ENSP00000239151:E170K	E	-	1	0	HOXB5	44025536	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.408000	0.80041	1.224000	0.43551	0.455000	0.32223	GAG		0.607	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			23	71	0	0	0	1	0	23	71				
LRP3	4037	broad.mit.edu	37	19	33698459	33698459	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr19:33698459A>T	ENST00000253193.7	+	7	2493	c.2291A>T	c.(2290-2292)gAt>gTt	p.D764V	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	764					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCCAGCGATGATGAGGCCCTG	0.657																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(2290-2292)gAt>gTt		low density lipoprotein receptor-related protein 3							16.0	18.0	17.0					19																	33698459		2159	4206	6365	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33698459A>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.2291A>T	19.37:g.33698459A>T	ENSP00000253193:p.Asp764Val						p.D764V	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			7	2493	+	Esophageal squamous(110;0.137)		764					B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.2291A>T	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091286	0.36855	.	.	ENSG00000130881	ENST00000253193	D	0.89485	-2.52	4.7	4.7	0.59300	.	0.232714	0.29355	N	0.012393	T	0.79890	0.4524	N	0.24115	0.695	0.19775	N	0.999951	B;B	0.26935	0.139;0.164	B;B	0.25140	0.058;0.055	T	0.71820	-0.4477	10	0.87932	D	0	-24.1085	6.8986	0.24271	0.8982:0.0:0.1018:0.0	.	764;682	O75074;B7ZAJ9	LRP3_HUMAN;.	V	764	ENSP00000253193:D764V	ENSP00000253193:D764V	D	+	2	0	LRP3	38390299	0.278000	0.24230	0.826000	0.32828	0.368000	0.29767	1.518000	0.35877	1.986000	0.57962	0.397000	0.26171	GAT		0.657	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			9	26	0	0	0	1	0	9	26				
E2F3	1871	broad.mit.edu	37	6	20490660	20490660	+	Nonstop_Mutation	SNP	G	G	C			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr6:20490660G>C	ENST00000346618.3	+	7	1463	c.1397G>C	c.(1396-1398)tGa>tCa	p.*466S	E2F3_ENST00000535432.1_Nonstop_Mutation_p.*335S	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	0					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ATGTGTAGTTGATTATGCTTC	0.458																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(1396-1398)tGa>tCa		E2F transcription factor 3							126.0	124.0	125.0					6																	20490660		2203	4300	6503	SO:0001578	stop_lost	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20490660G>C	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1397G>C	6.37:g.20490660G>C	ENSP00000262904:p.*466Serext*5					E2F3_ENST00000535432.1_Nonstop_Mutation_p.*335S	p.*466S	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		7	1463	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		0					Q15000|Q68DT0|Q9BZ44	Nonstop_Mutation	SNP	ENST00000346618.3	37	c.1397G>C	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	.	10.38	1.333141	0.24167	.	.	ENSG00000112242	ENST00000378646;ENST00000346618;ENST00000535432	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0407	0.97588	0.0:0.0:1.0:0.0	.	.	.	.	S	129;466;335	.	.	X	+	2	2	E2F3	20598639	1.000000	0.71417	0.999000	0.59377	0.498000	0.33706	5.316000	0.65815	2.746000	0.94184	0.561000	0.74099	TGA		0.458	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			48	55	0	0	0	1	0	48	55				
RGPD1	400966	broad.mit.edu	37	2	87141032	87141032	+	Intron	SNP	G	G	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr2:87141032G>T	ENST00000409776.2	+	1	64				RGPD1_ENST00000398193.3_Silent_p.P20P			P0DJD0	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1						protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(1)|lung(1)	3						GCTCCGCCCCGTCGCCTGGAA	0.736																																						ENST00000398193.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.(58-60)ccG>ccT		RANBP2-like and GRIP domain containing 1							7.0	12.0	10.0					2																	87141032		2066	4161	6227	SO:0001627	intron_variant	400966				intracellular transport		binding	g.chr2:87141032G>T		CCDS46358.1, CCDS46358.2	2p11.2	2013-09-24			ENSG00000187627	ENSG00000187627		"""Tetratricopeptide (TTC) repeat domain containing"""	32414	protein-coding gene	gene with protein product		612704				15710750, 15815621	Standard	NM_001024457		Approved	RGP1	uc021vkh.1	P0DJD0	OTTHUMG00000153248	ENST00000409776.2:c.48+5893G>T	2.37:g.87141032G>T						RGPD1_ENST00000409776.2_Intron	p.P20P			Q68DN6	RGPD1_HUMAN			1	98	+			0					P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000409776.2	37	c.60G>T																																																																																					0.736	RGPD1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001024457		4	7	1	0	0.014758	1	0.0149766	4	7				
TTN	7273	broad.mit.edu	37	2	179587386	179587386	+	Splice_Site	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr2:179587386C>T	ENST00000591111.1	-	74	21513	c.21289G>A	c.(21289-21291)Gag>Aag	p.E7097K	RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Splice_Site_p.E7414K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site_p.E6170K			Q8WZ42	TITIN_HUMAN	titin	12675					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)			ATATCATCACCTTGAATTCTG	0.303																																						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.e76+1		titin							36.0	36.0	36.0					2																	179587386		1839	4084	5923	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587386C>T	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.21289+1G>A	2.37:g.179587386C>T						TTN_ENST00000591111.1_Splice_Site_p.E7097_splice|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site_p.E6170_splice|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.E7414_splice	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)		76	22464	-			7097			Ig-like 56.		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	Splice_Site	SNP	ENST00000591111.1	37	c.22240_splice		.	.	.	.	.	.	.	.	.	.	C	15.07	2.724035	0.48728	.	.	ENSG00000155657	ENST00000342992	T	0.46819	0.86	5.95	5.95	0.96441	Ribonuclease H-like (1);	.	.	.	.	T	0.58221	0.2107	M	0.88241	2.94	0.80722	D	1	P	0.48230	0.907	B	0.39185	0.293	T	0.67741	-0.5592	8	.	.	.	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	7097	Q8WZ42	TITIN_HUMAN	K	6170	ENSP00000343764:E6170K	.	E	-	1	0	TTN	179295631	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.008000	0.70739	2.821000	0.97095	0.650000	0.86243	GAG		0.303	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	9	17	0	0	0	1	0	9	17				
OR6T1	219874	broad.mit.edu	37	11	123813778	123813778	+	Silent	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr11:123813778G>A	ENST00000321252.2	-	1	802	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTAGAGAAAGATGGAACTGC	0.517																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(766-768)atC>atT		olfactory receptor, family 6, subfamily T, member 1							183.0	155.0	164.0					11																	123813778		2202	4299	6501	SO:0001819	synonymous_variant	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813778G>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.768C>T	11.37:g.123813778G>A							p.I256I	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	802	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	256					Q6IFE7	Silent	SNP	ENST00000321252.2	37	c.768C>T	CCDS31700.1																																																																																				0.517	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		41	86	0	0	0	1	0	41	86				
ZNF334	55713	broad.mit.edu	37	20	45130776	45130776	+	Missense_Mutation	SNP	C	C	G	rs543974571	byFrequency	TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr20:45130776C>G	ENST00000347606.4	-	5	1384	c.1202G>C	c.(1201-1203)gGg>gCg	p.G401A	ZNF334_ENST00000593880.1_Missense_Mutation_p.G424A|ZNF334_ENST00000457685.2_Missense_Mutation_p.G363A	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	401					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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGGTTTTTCCCCTGTGTGAAT	0.433																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1087-1089)gGg>gCg		zinc finger protein 334							124.0	117.0	120.0					20																	45130776		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130776C>G	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1202G>C	20.37:g.45130776C>G	ENSP00000255129:p.Gly401Ala					ZNF334_ENST00000593880.1_Missense_Mutation_p.G424A|ZNF334_ENST00000347606.4_Missense_Mutation_p.G401A	p.G363A			Q9HCZ1	ZN334_HUMAN			6	2411	-		Myeloproliferative disorder(115;0.0122)	401					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.1088G>C	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551096	0.45383	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.26373	1.74;1.74	2.97	2.01	0.26516	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28234	0.0697	L	0.48642	1.525	0.32647	N	0.519929	P;P;P	0.45715	0.865;0.865;0.865	P;P;P	0.48189	0.57;0.57;0.57	T	0.40001	-0.9586	9	0.87932	D	0	.	7.8563	0.29485	0.0:0.8694:0.0:0.1306	.	363;401;424	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	A	363;401	ENSP00000402582:G363A;ENSP00000255129:G401A	ENSP00000255129:G401A	G	-	2	0	ZNF334	44564183	0.063000	0.20901	0.294000	0.24946	0.734000	0.41952	1.559000	0.36320	0.573000	0.29400	-0.229000	0.12294	GGG		0.433	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			14	110	0	0	0	1	0	14	110				
NAV3	89795	broad.mit.edu	37	12	78582051	78582051	+	Silent	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr12:78582051G>A	ENST00000397909.2	+	32	5987	c.5814G>A	c.(5812-5814)ttG>ttA	p.L1938L	NAV3_ENST00000266692.7_Silent_p.L1739L|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Silent_p.L1916L|NAV3_ENST00000228327.6_Silent_p.L1916L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1938						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.L1916F(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGCATATTTGATAGGATCCA	0.323										HNSCC(70;0.22)																												ENST00000397909.2																			1	Substitution - Missense(1)	p.L1916F(1)	upper_aerodigestive_tract(1)	NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(5812-5814)ttG>ttA		neuron navigator 3							107.0	102.0	103.0					12																	78582051		1813	4077	5890	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78582051G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5814G>A	12.37:g.78582051G>A		HNSCC(70;0.22)				NAV3_ENST00000536525.2_Silent_p.L1916L|NAV3_ENST00000266692.7_Silent_p.L1739L|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Silent_p.L1916L	p.L1938L			Q8IVL0	NAV3_HUMAN			32	5987	+			1938					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.5814G>A		.	.	.	.	.	.	.	.	.	.	G	6.238	0.412122	0.11812	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.74	1.47	0.22746	.	.	.	.	.	T	0.58221	0.2107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53500	-0.8430	4	.	.	.	-1.2057	9.8233	0.40896	0.448:0.0:0.552:0.0	.	.	.	.	N	811	.	.	D	+	1	0	NAV3	77106182	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	0.616000	0.24344	0.603000	0.29913	-0.229000	0.12294	GAT		0.323	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		19	56	0	0	0	1	0	19	56				
SLC35A5	55032	broad.mit.edu	37	3	112301521	112301521	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr3:112301521G>A	ENST00000492406.1	+	7	1496	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	405					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CTTTTAGGATGGAGAAGAACT	0.363																																						ENST00000492406.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						c.(1213-1215)Gga>Aga		solute carrier family 35, member A5							135.0	133.0	134.0					3																	112301521		2203	4300	6503	SO:0001583	missense	55032					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr3:112301521G>A	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.1213G>A	3.37:g.112301521G>A	ENSP00000417654:p.Gly405Arg					SLC35A5_ENST00000460713.1_3'UTR	p.G405R	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN			7	1496	+			405					D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	37	c.1213G>A	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534115	0.85812	.	.	ENSG00000138459	ENST00000492406	T	0.55052	0.54	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.70999	-0.4719	10	0.48119	T	0.1	-13.8101	17.422	0.87517	0.0:0.0:1.0:0.0	.	405	Q9BS91	S35A5_HUMAN	R	405	ENSP00000417654:G405R	ENSP00000417654:G405R	G	+	1	0	SLC35A5	113784211	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.020000	0.76419	2.607000	0.88179	0.585000	0.79938	GGA		0.363	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		16	38	0	0	0	1	0	16	38				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	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		4	47	0	0	0	1	0	4	47				
GFAP	2670	broad.mit.edu	37	17	42992568	42992568	+	Missense_Mutation	SNP	G	G	A	rs552590923		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:42992568G>A	ENST00000253408.5	-	1	352	c.287C>T	c.(286-288)gCg>gTg	p.A96V	GFAP_ENST00000586793.1_Missense_Mutation_p.A96V|GFAP_ENST00000435360.2_Missense_Mutation_p.A96V|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	96	Coil 1A.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				AGCAGCCAGCGCCTTGTTTTG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17192	0.0		0.0	False		,,,				2504	0.001					ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(286-288)gCg>gTg		glial fibrillary acidic protein							79.0	65.0	70.0					17																	42992568		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42992568G>A	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.287C>T	17.37:g.42992568G>A	ENSP00000253408:p.Ala96Val					GFAP_ENST00000435360.2_Missense_Mutation_p.A96V|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.A96V	p.A96V	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			1	352	-		Prostate(33;0.0959)	96			Coil 1A.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.287C>T	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.363510	0.24684	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360;ENST00000376990	D;D;D	0.89050	-2.46;-2.46;-2.46	4.69	2.7	0.31948	Filament (1);	0.226096	0.40302	N	0.001121	T	0.67211	0.2869	N	0.05177	-0.1	0.25571	N	0.986892	B;B	0.16166	0.016;0.001	B;B	0.13407	0.003;0.009	T	0.56535	-0.7963	10	0.02654	T	1	.	2.4481	0.04511	0.2336:0.0:0.5031:0.2633	.	96;96	E9PAX3;P14136	.;GFAP_HUMAN	V	96;71;96;96	ENSP00000253408:A96V;ENSP00000403962:A96V;ENSP00000366189:A96V	ENSP00000253408:A96V	A	-	2	0	GFAP	40348094	0.288000	0.24324	0.957000	0.39632	0.902000	0.53008	3.729000	0.54999	1.339000	0.45563	-0.475000	0.04921	GCG		0.612	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		11	51	0	0	0	1	0	11	51				
TYSND1	219743	broad.mit.edu	37	10	71902510	71902510	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr10:71902510G>A	ENST00000287078.6	-	3	1396	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	TYSND1_ENST00000335494.5_Intron|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	466	Serine protease.				protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CATTACGGGCGTGCCATTCAC	0.612																																						ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(1396-1398)aCg>aTg		trypsin domain containing 1							63.0	51.0	55.0					10																	71902510		2203	4300	6503	SO:0001583	missense	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71902510G>A	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1397C>T	10.37:g.71902510G>A	ENSP00000287078:p.Thr466Met					TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_Intron	p.T466M	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			3	1396	-			466			Serine protease.		Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	c.1397C>T	CCDS31213.1	.	.	.	.	.	.	.	.	.	.	G	3.570	-0.087770	0.07097	.	.	ENSG00000156521	ENST00000287078	D	0.88277	-2.36	5.21	-1.43	0.08884	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.798105	0.11817	N	0.526622	T	0.74207	0.3686	N	0.13043	0.29	0.09310	N	1	B	0.31581	0.329	B	0.22386	0.039	T	0.59799	-0.7386	10	0.41790	T	0.15	-0.0559	6.8822	0.24179	0.2652:0.3154:0.4193:0.0	.	466	Q2T9J0	TYSD1_HUMAN	M	466	ENSP00000287078:T466M	ENSP00000287078:T466M	T	-	2	0	TYSND1	71572516	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.048000	0.14078	-0.758000	0.04690	-1.937000	0.00501	ACG		0.612	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		4	37	0	0	0	1	0	4	37				
PLEKHG5	57449	broad.mit.edu	37	1	6530577	6530577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr1:6530577delC	ENST00000400915.3	-	16	1903	c.1837delG	c.(1837-1839)gaafs	p.E613fs	PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.E626fs|PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.E634fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.E636fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.E594fs|PLEKHG5_ENST00000377748.1_Frame_Shift_Del_p.E634fs	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	613					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TTGTCCACTTCGTCGCTGCTG	0.687																																						ENST00000377748.1																			0				liver(1)	1						c.(1900-1902)aafs		pleckstrin homology domain containing, family G (with RhoGef domain) member 5							68.0	79.0	75.0					1																	6530577		2202	4299	6501	SO:0001589	frameshift_variant	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6530577delC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1837delG	1.37:g.6530577delC	ENSP00000383706:p.Glu613fs					PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.E626fs|PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.E636fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.E594fs|PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.E634fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000400915.3_Frame_Shift_Del_p.E613fs	p.E634fs	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	16	2397	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	613					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Frame_Shift_Del	DEL	ENST00000400915.3	37	c.1900delG	CCDS41241.1																																																																																				0.687	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		32	72						32	72	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65226568	65226569	+	RNA	INS	-	-	T			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:65226568_65226569insT	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		tgcccggccCCttttttttttt	0.411																																						ENST00000442266.1																			0																																																			643253							g.chr7:65226568_65226569insT	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.65226579_65226579dupT														0	1167	+									RNA	INS	ENST00000442266.1	37																																																																																						0.411	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	4						3	4	---	---	---	---
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					ENST00000478318.2																			0																																																			100874100							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC						DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA								0	424	-									RNA	INS	ENST00000478318.2	37																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			2	4						2	4	---	---	---	---
CD276	80381	broad.mit.edu	37	15	74003500	74003500	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr15:74003500delA	ENST00000318443.5	+	9	1873	c.1571delA	c.(1570-1572)gacfs	p.D524fs	CD276_ENST00000318424.5_Frame_Shift_Del_p.D306fs|CD276_ENST00000564751.1_Frame_Shift_Del_p.D306fs|CD276_ENST00000561213.1_Frame_Shift_Del_p.D524fs|CD276_ENST00000537340.2_Frame_Shift_Del_p.D378fs	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	524					cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						AAACACTCTGACAGCAAAGAA	0.542																																						ENST00000318443.5																			0				endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						c.(1570-1572)gcfs		CD276 molecule							158.0	133.0	141.0					15																	74003500		2198	4297	6495	SO:0001589	frameshift_variant	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:74003500delA	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.1571delA	15.37:g.74003500delA	ENSP00000320084:p.Asp524fs					CD276_ENST00000318424.5_Frame_Shift_Del_p.D306fs|CD276_ENST00000564751.1_Frame_Shift_Del_p.D306fs|CD276_ENST00000561213.1_Frame_Shift_Del_p.D524fs|CD276_ENST00000537340.2_Frame_Shift_Del_p.D378fs	p.D524fs	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN			9	1873	+			524					Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Frame_Shift_Del	DEL	ENST00000318443.5	37	c.1571delA	CCDS32288.1																																																																																				0.542	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		8	96						8	96	---	---	---	---
SUZ12P1	440423	broad.mit.edu	37	17	29086616	29086616	+	RNA	DEL	A	A	-			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:29086616delA	ENST00000582557.1	+	0	1064																											TTGTGAATGTAAAAAAAAAGT	0.299																																						ENST00000582557.1																			0																																																			440423							g.chr17:29086616delA																													17.37:g.29086616delA														0	1064	+									RNA	DEL	ENST00000582557.1	37																																																																																						0.299	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			2	4						2	4	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74003394	74003407	+	Frame_Shift_Del	DEL	GATCATCCCGGAGA	GATCATCCCGGAGA	-	rs200693370|rs373369065|rs377756112		TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr17:74003394_74003407delGATCATCCCGGAGA	ENST00000301607.3	-	22	6132_6145	c.5879_5892delTCTCCGGGATGATC	c.(5878-5892)ctctccgggatgatcfs	p.LSGMI1960fs	EVPL_ENST00000586740.1_Frame_Shift_Del_p.LSGMI1982fs|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1960	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTCTTCACTGATCATCCCGGAGAGGAGGGCCTG	0.64																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5878-5892)cfs		envoplakin																																				SO:0001589	frameshift_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003394_74003407delGATCATCCCGGAGA	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5879_5892delTCTCCGGGATGATC	17.37:g.74003394_74003407delGATCATCCCGGAGA	ENSP00000301607:p.Leu1960fs					EVPL_ENST00000586740.1_Frame_Shift_Del_p.LSGMI1982fs	p.LSGMI1960fs	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	6132_6145	-			1960			Globular 2.		A0AUV5	Frame_Shift_Del	DEL	ENST00000301607.3	37	c.5879_5892delTCTCCGGGATGATC	CCDS11737.1																																																																																				0.640	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		30	86						30	86	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13441114	13441114	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A6EQ-01A-11D-A31L-08	TCGA-D6-A6EQ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60d93b0a-f054-48cc-b0ae-03e05a209007	0c2dab79-6367-4c3e-9e98-1ab522d61c7b	g.chr19:13441114delG	ENST00000360228.5	-	10	1288	c.1289delC	c.(1288-1290)acafs	p.T430fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.T431fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	431					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGCAAATCTGTCTTGCTTTT	0.478																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1288-1290)aafs		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						84.0	83.0	83.0					19																	13441114		1899	4119	6018	SO:0001589	frameshift_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13441114delG	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1289delC	19.37:g.13441114delG	ENSP00000353362:p.Thr430fs					CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.T431fs	p.T430fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		10	1288	-			431					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Frame_Shift_Del	DEL	ENST00000360228.5	37	c.1289delC	CCDS45998.1																																																																																				0.478	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		2	4						2	4	---	---	---	---
