#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
CLCN6	1185	broad.mit.edu	37	1	11897130	11897130	+	Missense_Mutation	SNP	G	G	C	rs137976806		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:11897130G>C	ENST00000346436.6	+	19	2107	c.2055G>C	c.(2053-2055)gaG>gaC	p.E685D	CLCN6_ENST00000376496.3_Missense_Mutation_p.E685D|CLCN6_ENST00000376487.3_Missense_Mutation_p.E663D|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	685					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCAGCGAGCTACGGAACA	0.622																																						uc001ate.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2053-2055)gaG>gaC		Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.							72.0	67.0	69.0					1																	11897130		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11897130G>C	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2055G>C	1.37:g.11897130G>C	ENSP00000234488:p.Glu685Asp					CLCN6_uc010oat.2_Missense_Mutation_p.E401D|CLCN6_uc010oau.2_Missense_Mutation_p.E663D	p.E685D	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	18	2168	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	685					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.2055G>C	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640325	0.67244	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.92048	-2.92;-2.9;-2.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	L	0.47716	1.5	0.80722	D	1	B;P	0.52842	0.426;0.956	B;D	0.65010	0.199;0.931	D	0.90529	0.4494	10	0.13470	T	0.59	-33.5969	18.8259	0.92119	0.0:0.0:1.0:0.0	.	663;685	F8W9R3;P51797	.;CLCN6_HUMAN	D	685;663;685	ENSP00000234488:E685D;ENSP00000365670:E663D;ENSP00000365679:E685D	ENSP00000234488:E685D	E	+	3	2	CLCN6	11819717	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	3.487000	0.53222	2.711000	0.92665	0.561000	0.74099	GAG		0.622	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286	
CSMD2	114784	broad.mit.edu	37	1	34035009	34035009	+	Missense_Mutation	SNP	T	T	C	rs143469891	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:34035009T>C	ENST00000373381.4	-	52	8272	c.8096A>G	c.(8095-8097)aAt>aGt	p.N2699S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2701	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAGAGCCCATTGGCCATGCA	0.547													T|||	3	0.000599042	0.0015	0.0	5008	,	,		18242	0.0		0.0	False		,,,				2504	0.001					uc001bxm.1																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(8095-8097)aAt>aGt		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.		T	SER/ASN	14,4392	21.2+/-45.6	0,14,2189	95.0	83.0	87.0		8102	5.5	1.0	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CSMD2	NM_052896.3	46	0,15,6488	CC,CT,TT		0.0116,0.3177,0.1153	probably-damaging	2701/3488	34035009	15,12991	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34035009T>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8096A>G	1.37:g.34035009T>C	ENSP00000362479:p.Asn2699Ser					CSMD2_uc001bxn.1_Missense_Mutation_p.N2701S	p.N2699S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			51	8273	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2701			Sushi 17.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.8096A>G		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	12.61	1.991086	0.35131	0.003177	1.16E-4	ENSG00000121904	ENST00000373381	T	0.66638	-0.22	5.47	5.47	0.80525	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	N	0.20445	0.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.72187	-0.4366	10	0.42905	T	0.14	.	14.7352	0.69412	0.0:0.0:0.0:1.0	.	2701;2699	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	2699	ENSP00000362479:N2699S	ENSP00000241312:N2701S	N	-	2	0	CSMD2	33807596	1.000000	0.71417	0.996000	0.52242	0.378000	0.30076	6.289000	0.72696	2.075000	0.62263	0.533000	0.62120	AAT		0.547	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
ZC3H12A	80149	broad.mit.edu	37	1	37948728	37948728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:37948728G>A	ENST00000373087.6	+	6	1432	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGACTCGGGCATTGGCTCC	0.662																																						uc001cbb.4																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1315-1317)gGc>gAc		Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.							23.0	26.0	25.0					1																	37948728		2203	4299	6502	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948728G>A		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1316G>A	1.37:g.37948728G>A	ENSP00000362179:p.Gly439Asp					ZC3H12A_uc001cbc.1_Missense_Mutation_p.G234D	p.G439D	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			5	1466	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	439						Missense_Mutation	SNP	ENST00000373087.6	37	c.1316G>A	CCDS417.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363965	0.82353	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.19394	2.15	5.52	5.52	0.82312	.	0.313822	0.33199	N	0.005176	T	0.46776	0.1410	M	0.68952	2.095	0.58432	D	0.99999	D;D	0.89917	1.0;0.991	D;D	0.97110	1.0;0.913	T	0.35400	-0.9790	10	0.54805	T	0.06	-33.2461	17.6306	0.88106	0.0:0.0:1.0:0.0	.	234;439	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	D	439	ENSP00000362179:G439D	ENSP00000362174:G439D	G	+	2	0	ZC3H12A	37721315	1.000000	0.71417	0.881000	0.34555	0.962000	0.63368	7.075000	0.76798	2.579000	0.87056	0.561000	0.74099	GGC		0.662	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079	
CACNA1E	777	broad.mit.edu	37	1	181700365	181700365	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:181700365C>A	ENST00000367573.2	+	19	2295	c.2295C>A	c.(2293-2295)caC>caA	p.H765Q	CACNA1E_ENST00000367567.4_Missense_Mutation_p.H372Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.H716Q|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000360108.3_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367570.1_Missense_Mutation_p.H765Q	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	765					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGCAGCCACCTGTATGTGT	0.522																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2293-2295)caC>caA		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							173.0	194.0	187.0					1																	181700365		2184	4257	6441	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181700365C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2295C>A	1.37:g.181700365C>A	ENSP00000356545:p.His765Gln					CACNA1E_uc001gow.3_Missense_Mutation_p.H765Q|CACNA1E_uc009wxs.3_Intron|CACNA1E_uc001gox.1_5'Flank	p.H765Q	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN			18	2490	+			765					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2295C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424353	0.25639	.	.	ENSG00000198216	ENST00000367570;ENST00000357570;ENST00000367567;ENST00000367573	D;D;D;D	0.95980	-3.79;-3.79;-3.87;-3.79	5.23	5.23	0.72850	.	7.143020	0.00166	N	0.000003	D	0.89629	0.6770	N	0.08118	0	0.46298	D	0.998979	B	0.06786	0.001	B	0.11329	0.006	T	0.69363	-0.5165	10	0.10902	T	0.67	.	9.2735	0.37686	0.0:0.8381:0.0:0.1619	.	765	Q15878-3	.	Q	765;716;372;765	ENSP00000356542:H765Q;ENSP00000350183:H716Q;ENSP00000356539:H372Q;ENSP00000356545:H765Q	ENSP00000350183:H716Q	H	+	3	2	CACNA1E	179966988	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.453000	0.35167	2.417000	0.82017	0.650000	0.86243	CAC		0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
OR4C6	219432	broad.mit.edu	37	11	55433335	55433335	+	Silent	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr11:55433335G>A	ENST00000314259.3	+	1	722	c.693G>A	c.(691-693)cgG>cgA	p.R231R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R231R(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTAAAGGGCGGCACAAAGCCC	0.507																																						uc010rik.2																			1	Substitution - coding silent(1)	p.R231R(2)|p.R231W(1)	kidney(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(691-693)cgG>cgA		Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.							131.0	125.0	127.0					11																	55433335		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433335G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.693G>A	11.37:g.55433335G>A							p.R231R	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			0	693	+			231					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.693G>A	CCDS31506.1																																																																																				0.507	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704	
HELB	92797	broad.mit.edu	37	12	66725048	66725048	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr12:66725048G>T	ENST00000247815.4	+	12	2844	c.2785G>T	c.(2785-2787)Gag>Tag	p.E929*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	929					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GATTGCAGAGGAGTCTCAGCT	0.532																																						uc001sti.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2785-2787)Gag>Tag		Homo sapiens helicase (DNA) B (HELB), mRNA.							47.0	50.0	49.0					12																	66725048		2203	4300	6503	SO:0001587	stop_gained	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66725048G>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2785G>T	12.37:g.66725048G>T	ENSP00000247815:p.Glu929*					HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	p.E929*	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	11	2813	+			929					A8K4C9|Q4G0T2|Q9H7L5	Nonsense_Mutation	SNP	ENST00000247815.4	37	c.2785G>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	39	7.593544	0.98378	.	.	ENSG00000127311	ENST00000247815	.	.	.	5.27	5.27	0.74061	.	0.237071	0.32836	N	0.005589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.8988	17.0629	0.86552	0.0:0.0:1.0:0.0	.	.	.	.	X	929	.	.	E	+	1	0	HELB	65011315	0.997000	0.39634	0.984000	0.44739	0.629000	0.37895	2.837000	0.48191	2.450000	0.82876	0.561000	0.74099	GAG		0.532	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1		
RB1	5925	broad.mit.edu	37	13	49039505	49039505	+	Splice_Site	SNP	G	G	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr13:49039505G>T	ENST00000267163.4	+	23	2627		c.e23+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAAGATCAAGGTGTGTGTTTT	0.358		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		27	Whole gene deletion(15)|Unknown(12)	p.0?(15)|p.?(12)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|urinary_tract(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS030560|CS030561	RB1	S		c.e23+1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						52.0	55.0	54.0					13																	49039505		2200	4299	6499	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039505G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2489+1G>T	13.37:g.49039505G>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R830_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2655	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	830			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.2489_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325872	0.81580	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.736	0.96205	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47937506	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.524000	0.90579	2.669000	0.90835	0.591000	0.81541	.		0.358	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron
C14orf37	145407	broad.mit.edu	37	14	58605421	58605421	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr14:58605421delT	ENST00000267485.7	-	2	850	c.656delA	c.(655-657)aatfs	p.N219fs	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	219						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGTCTTTGGATTGGTGGTTAG	0.448																																						uc010tro.2																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(769-771)aatfs		Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.							130.0	118.0	122.0					14																	58605421		2203	4300	6503	SO:0001589	frameshift_variant	145407					integral to membrane	binding	g.chr14:58605421delT		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.656delA	14.37:g.58605421delT	ENSP00000267485:p.Asn219fs					C14orf37_uc001xdc.3_Frame_Shift_Del_p.N219fs|C14orf37_uc001xdd.3_Frame_Shift_Del_p.N219fs|C14orf37_uc001xde.3_Frame_Shift_Del_p.N219fs	p.N257fs	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	968	-			219					A8K8Z8|Q6P5Q1|Q86TY1	Frame_Shift_Del	DEL	ENST00000267485.7	37	c.770delA	CCDS32089.1																																																																																				0.448	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	
ZSCAN29	146050	broad.mit.edu	37	15	43658653	43658653	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr15:43658653G>A	ENST00000396976.2	-	3	1011	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.R292W	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	293					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCCAGGGTCCGGAGGAAGCCA	0.542																																						uc001zrk.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(877-879)Cgg>Tgg		Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.							72.0	78.0	76.0					15																	43658653		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43658653G>A	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.877C>T	15.37:g.43658653G>A	ENSP00000380174:p.Arg293Trp					ZSCAN29_uc001zrj.1_Missense_Mutation_p.R173W|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R292W|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.R292W	p.R293W	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	2	1024	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	293					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.877C>T	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984977	0.74474	.	.	ENSG00000140265	ENST00000396976	T	0.56776	0.44	4.98	4.07	0.47477	.	0.258640	0.28006	N	0.016978	T	0.78123	0.4234	H	0.94808	3.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.971	T	0.82898	-0.0229	10	0.87932	D	0	-0.0535	11.1198	0.48281	0.0896:0.0:0.9104:0.0	.	292;293;293	C9K0J8;Q8IWY8-3;Q8IWY8	.;.;ZSC29_HUMAN	W	293	ENSP00000380174:R293W	ENSP00000380174:R293W	R	-	1	2	ZSCAN29	41445945	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.581000	0.46077	1.319000	0.45190	0.655000	0.94253	CGG		0.542	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455	
FANCI	55215	broad.mit.edu	37	15	89859689	89859689	+	Nonstop_Mutation	SNP	A	A	C			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr15:89859689A>C	ENST00000310775.7	+	38	4072	c.3986A>C	c.(3985-3987)tAa>tCa	p.*1329S	POLG_ENST00000442287.2_3'UTR|POLG_ENST00000268124.5_3'UTR|FANCI_ENST00000300027.8_Nonstop_Mutation_p.*1269S	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	0					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGGAAAAAATAAATGAAATGC	0.438								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3985-3987)tAa>tCa	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.							37.0	36.0	36.0					15																	89859689		2200	4299	6499	SO:0001578	stop_lost	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89859689A>C	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3986A>C	15.37:g.89859689A>C	ENSP00000310842:p.*1329Serext*6					FANCI_uc002bnm.1_Nonstop_Mutation_p.*1269S|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Nonstop_Mutation_p.*1089S|FANCI_uc002bnq.1_Nonstop_Mutation_p.*742S|POLG_uc002bns.4_3'UTR|POLG_uc002bnr.4_3'UTR	p.*1329S	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			37	4076	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		0					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Nonstop_Mutation	SNP	ENST00000310775.7	37	c.3986A>C	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.446240	0.63178	.	.	ENSG00000140525	ENST00000300027;ENST00000310775	.	.	.	4.3	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2049	0.25901	0.8913:0.0:0.1087:0.0	.	.	.	.	S	1269;1329	.	.	X	+	2	2	FANCI	87660693	0.905000	0.30787	0.985000	0.45067	0.989000	0.77384	1.852000	0.39348	1.563000	0.49615	0.533000	0.62120	TAA		0.438	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193	
CHST5	23563	broad.mit.edu	37	16	75563927	75563927	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr16:75563927C>T	ENST00000336257.3	-	3	1750	c.356G>A	c.(355-357)cGc>cAc	p.R119H	CHST5_ENST00000541075.1_Missense_Mutation_p.R125H|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	119					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AAAGATAGAGCGCATCAGGTC	0.617																																						uc002fej.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(373-375)cGc>cAc		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.							69.0	60.0	63.0					16																	75563927		2198	4300	6498	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563927C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.356G>A	16.37:g.75563927C>T	ENSP00000338783:p.Arg119His					CHST5_uc002fei.3_Missense_Mutation_p.R119H|CHST5_uc021tlk.1_Missense_Mutation_p.R119H	p.R125H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			4	695	-			119					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.374G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432580	0.43224	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.82984	-1.67;-1.67	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.67625	2.065	0.53005	D	0.999968	D;D	0.60575	0.985;0.988	P;P	0.60068	0.792;0.868	D	0.87496	0.2430	10	0.51188	T	0.08	.	12.3965	0.55389	0.0:1.0:0.0:0.0	.	125;119	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	H	119;125	ENSP00000338783:R119H;ENSP00000441220:R125H	ENSP00000338783:R119H	R	-	2	0	CHST5	74121428	1.000000	0.71417	0.977000	0.42913	0.055000	0.15305	4.525000	0.60559	1.514000	0.48869	0.313000	0.20887	CGC		0.617	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126	
KARS	3735	broad.mit.edu	37	16	75670442	75670442	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr16:75670442C>G	ENST00000302445.3	-	4	431	c.392G>C	c.(391-393)aGg>aCg	p.R131T	KARS_ENST00000319410.5_Missense_Mutation_p.R159T|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	131					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GGCATGGATCCTACCTAGAAA	0.408																																						uc002feq.3																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(391-393)aGg>aCg		Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	L-Lysine(DB00123)						105.0	109.0	107.0					16																	75670442		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75670442C>G	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.392G>C	16.37:g.75670442C>G	ENSP00000303043:p.Arg131Thr					KARS_uc002fer.3_Missense_Mutation_p.R159T|KARS_uc010cgz.3_5'UTR	p.R131T	NM_005548	NP_005539	Q15046	SYK_HUMAN			3	440	-			131					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.392G>C	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069365	0.93950	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.73681	-0.77;-0.77	5.96	5.96	0.96718	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	D	0.93703	0.7988	H	0.99914	4.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.96345	0.9254	10	0.87932	D	0	-19.3774	19.0001	0.92830	0.0:1.0:0.0:0.0	.	159;131	Q15046-2;Q15046	.;SYK_HUMAN	T	159;131	ENSP00000325448:R159T;ENSP00000303043:R131T	ENSP00000303043:R131T	R	-	2	0	KARS	74227943	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.603000	0.82811	2.832000	0.97577	0.655000	0.94253	AGG		0.408	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548	
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	rs587782144		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000420246.2_Missense_Mutation_p.R158H|TP53_ENST00000455263.2_Missense_Mutation_p.R158H	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (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).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GGCCATGGCGCGGACGCGGGT	0.627		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)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(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	CM994513	TP53	M		c.(472-474)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							49.0	51.0	50.0					17																	7578457		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.chr17:7578457C>T	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.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His	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_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	p.R158H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (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).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.473G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CYP4F2	8529	broad.mit.edu	37	19	15989675	15989675	+	Missense_Mutation	SNP	C	C	T	rs143677430	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:15989675C>T	ENST00000221700.6	-	13	1564	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGCAGGACGCGGAAGCGCAG	0.672																																						uc002nbs.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1468-1470)cGc>cAc		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.		C	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	40.0	38.0	39.0		1469	2.6	0.5	19	dbSNP_134	39	0,8600		0,0,4300	no	missense	CYP4F2	NM_001082.3	29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	490/521	15989675	5,13001	2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15989675C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1469G>A	19.37:g.15989675C>T	ENSP00000221700:p.Arg490His					CYP4F2_uc010xot.1_Missense_Mutation_p.R341H	p.R490H	NM_001082	NP_001073	P78329	CP4F2_HUMAN			12	1519	-			490						Missense_Mutation	SNP	ENST00000221700.6	37	c.1469G>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	9.888	1.203359	0.22121	0.001135	0.0	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.69561	-0.41	2.63	2.63	0.31362	.	0.234392	0.26414	U	0.024509	T	0.60183	0.2249	L	0.57130	1.785	0.50313	D	0.999864	B	0.26708	0.157	B	0.34931	0.192	T	0.59198	-0.7499	10	0.42905	T	0.14	.	5.4571	0.16596	0.0:0.8371:0.0:0.1629	.	490	P78329	CP4F2_HUMAN	H	490;341	ENSP00000221700:R490H	ENSP00000221700:R490H	R	-	2	0	CYP4F2	15850675	0.302000	0.24454	0.510000	0.27712	0.260000	0.26232	1.084000	0.30828	1.453000	0.47775	0.491000	0.48974	CGC		0.672	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																						uc002nrn.3																			12	Substitution - Missense(12)	p.Q111E(12)	kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)	endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(331-333)Cag>Gag		Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.																																				SO:0001583	missense	388524				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	g.chr19:24010294C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu						p.Q111E	NM_002295	NP_002286	P08865	RSSA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	3	754	+			111			Interaction with PPP1R16B.			Missense_Mutation	SNP	ENST00000496398.1	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662	
ZNF578	147660	broad.mit.edu	37	19	53014344	53014344	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:53014344G>T	ENST00000421239.2	+	6	954	c.710G>T	c.(709-711)gGc>gTc	p.G237V	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AATGAGACTGGCGAAGCCTTT	0.313																																						uc002pzp.4																			0											c.(709-711)gGc>gTc		Homo sapiens zinc finger protein 578 (ZNF578), mRNA.							69.0	71.0	70.0					19																	53014344		2203	4299	6502	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014344G>T	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.710G>T	19.37:g.53014344G>T	ENSP00000459216:p.Gly237Val						p.G237V	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	5	954	+			12					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.710G>T	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	12.30	1.897237	0.33535	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-1.44	0.08856	.	.	.	.	.	T	0.75474	0.3854	M	0.91354	3.2	0.33248	D	0.55814	D	0.89917	1.0	D	0.91635	0.999	T	0.75488	-0.3300	7	.	.	.	.	6.4429	0.21859	0.2715:0.0:0.7285:0.0	.	237	G3V4F6	.	V	237	.	.	G	+	2	0	ZNF578	57706156	0.003000	0.15002	0.001000	0.08648	0.110000	0.19582	-0.032000	0.12266	-0.487000	0.06735	0.297000	0.19635	GGC		0.313	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472	
LAIR1	3903	broad.mit.edu	37	19	54875933	54875933	+	Silent	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:54875933G>A	ENST00000391742.2	-	2	191	c.39C>T	c.(37-39)ctC>ctT	p.L13L	LAIR1_ENST00000434277.2_Silent_p.L13L|LAIR1_ENST00000391743.3_Intron|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Silent_p.L13L|LAIR1_ENST00000313038.6_Silent_p.L7L|LAIR1_ENST00000348231.4_Silent_p.L13L			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	13					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GGGCCAGGCAGAGCACTGGAA	0.617																																						uc002qfk.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(37-39)ctC>ctT		Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.							75.0	69.0	71.0					19																	54875933		2203	4300	6503	SO:0001819	synonymous_variant	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54875933G>A	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.39C>T	19.37:g.54875933G>A						LAIR1_uc002qfl.1_Silent_p.L13L|LAIR1_uc002qfm.1_Silent_p.L13L|LAIR1_uc002qfn.1_Silent_p.L13L|LAIR1_uc010yex.2_Silent_p.L7L|LAIR1_uc002qfo.3_Intron	p.L13L	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	1	349	-	Ovarian(34;0.19)		13						Silent	SNP	ENST00000391742.2	37	c.39C>T	CCDS12891.1																																																																																				0.617	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1		
TTN	7273	broad.mit.edu	37	2	179458768	179458768	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr2:179458768C>T	ENST00000591111.1	-	247	53653	c.53429G>A	c.(53428-53430)cGt>cAt	p.R17810H	TTN_ENST00000460472.2_Missense_Mutation_p.R10386H|TTN_ENST00000342992.6_Missense_Mutation_p.R16883H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10578H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10511H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R19451H			Q8WZ42	TITIN_HUMAN	titin	17810	Ig-like 104.				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)			GGAATCTGAACGTTTGGCCTT	0.418																																						uc021vsy.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.(50647-50649)cGt>cAt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							184.0	179.0	181.0					2																	179458768		2020	4192	6212	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458768C>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.53429G>A	2.37:g.179458768C>T	ENSP00000465570:p.Arg17810His					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10578H|TTN_uc021vta.1_Missense_Mutation_p.R10511H|TTN_uc021vtb.1_Missense_Mutation_p.R10386H	p.R16883H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	50873	-			17810			Fibronectin type-III 22.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50648G>A		.	.	.	.	.	.	.	.	.	.	C	19.26	3.793335	0.70452	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69931	0.3166	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.70680	-0.4805	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	10386;10511;10578;17810	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	16883;10386;10578;10511;10384	ENSP00000343764:R16883H;ENSP00000434586:R10386H;ENSP00000340554:R10578H;ENSP00000352154:R10511H	ENSP00000340554:R10578H	R	-	2	0	TTN	179167014	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.760000	0.85248	2.941000	0.99782	0.655000	0.94253	CGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SF3B1	23451	broad.mit.edu	37	2	198267698	198267698	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr2:198267698C>T	ENST00000335508.6	-	13	1872	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	594				R -> L (in Ref. 1; AAC97189). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AATGATCTCTCGGCCTTCCAC	0.338			Mis		myelodysplastic syndrome																																	uc002uue.3				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1780-1782)cGa>cAa		Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.							63.0	61.0	62.0					2																	198267698		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267698C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1781G>A	2.37:g.198267698C>T	ENSP00000335321:p.Arg594Gln						p.R594Q	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		12	1829	-			594	R -> L (in Ref. 1; AAC97189).				E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1781G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	36	5.804827	0.96967	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86389	0.5921	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87906	0.2694	9	0.59425	D	0.04	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	594	O75533	SF3B1_HUMAN	Q	594	.	ENSP00000335321:R594Q	R	-	2	0	SF3B1	197975943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGA		0.338	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		
PTPRA	5786	broad.mit.edu	37	20	3003414	3003414	+	Missense_Mutation	SNP	G	G	A	rs200587047		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:3003414G>A	ENST00000216877.6	+	15	1781	c.1381G>A	c.(1381-1383)Gtg>Atg	p.V461M	PTPRA_ENST00000380393.3_Missense_Mutation_p.V470M|PTPRA_ENST00000318266.5_Missense_Mutation_p.V461M|PTPRA_ENST00000358719.4_Missense_Mutation_p.V326M|PTPRA_ENST00000425918.2_Missense_Mutation_p.V481M|PTPRA_ENST00000356147.3_Missense_Mutation_p.V461M|PTPRA_ENST00000399903.2_Missense_Mutation_p.V470M	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	470	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAAGGTGGACGTGTATGGCTT	0.577																																						uc010zqd.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1441-1443)Gtg>Atg		Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.							191.0	131.0	151.0					20																	3003414		2203	4300	6503	SO:0001583	missense	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3003414G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1381G>A	20.37:g.3003414G>A	ENSP00000216877:p.Val461Met					PTPRA_uc002whj.3_Missense_Mutation_p.V470M|PTPRA_uc002whk.3_Missense_Mutation_p.V461M|PTPRA_uc002whl.3_Missense_Mutation_p.V461M|PTPRA_uc002whm.3_Missense_Mutation_p.V237M|PTPRA_uc002whn.3_Missense_Mutation_p.V461M|PTPRA_uc002who.3_Missense_Mutation_p.V133M	p.V481M	NM_002836	NP_002827	P18433	PTPRA_HUMAN			14	1758	+			470			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.1441G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095059	0.94197	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	D	0.93374	0.7887	M	0.88450	2.955	0.80722	D	1	D;P;D	0.76494	0.999;0.952;0.982	D;P;P	0.63283	0.913;0.656;0.83	D	0.94003	0.7277	10	0.87932	D	0	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	481;470;461	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	M	470;461;470;326;80;481;461;461	ENSP00000369756:V470M;ENSP00000216877:V461M;ENSP00000382787:V470M;ENSP00000351559:V326M;ENSP00000393553:V481M;ENSP00000314568:V461M;ENSP00000348468:V461M	ENSP00000216877:V461M	V	+	1	0	PTPRA	2951414	1.000000	0.71417	0.981000	0.43875	0.982000	0.71751	6.750000	0.74888	2.708000	0.92522	0.561000	0.74099	GTG		0.577	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3		
KIF16B	55614	broad.mit.edu	37	20	16496298	16496298	+	Silent	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:16496298G>A	ENST00000354981.2	-	4	400	c.243C>T	c.(241-243)acC>acT	p.T81T	KIF16B_ENST00000408042.1_Silent_p.T81T|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.T81T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	81	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGTGCCGAGGGTTTTGAAAA	0.373																																						uc002wpg.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(241-243)acC>acT		Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.							80.0	74.0	76.0					20																	16496298		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16496298G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.243C>T	20.37:g.16496298G>A						KIF16B_uc010gch.2_Silent_p.T81T|KIF16B_uc010gci.2_Silent_p.T81T|KIF16B_uc010gcj.2_Silent_p.T81T	p.T81T	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			3	402	-			81			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.243C>T	CCDS13122.1																																																																																				0.373	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
WFDC8	90199	broad.mit.edu	37	20	44181787	44181787	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:44181787T>C	ENST00000357199.4	-	5	652	c.574A>G	c.(574-576)Agg>Ggg	p.R192G	WFDC8_ENST00000289953.2_Missense_Mutation_p.R192G	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	192	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GTCCAGGCCCTGGCACAAACA	0.502																																						uc002xow.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(574-576)Agg>Ggg		Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.							136.0	118.0	124.0					20																	44181787		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44181787T>C	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.574A>G	20.37:g.44181787T>C	ENSP00000361735:p.Arg192Gly					WFDC8_uc002xox.3_Missense_Mutation_p.R192G	p.R192G	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			4	653	-		Myeloproliferative disorder(115;0.0122)	192			WAP 2.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.574A>G	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785592	0.31593	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	D;D	0.90004	-2.6;-2.6	4.91	-5.92	0.02261	Whey acidic protein, 4-disulphide core (4);	3.132180	0.00815	N	0.001524	T	0.78553	0.4301	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.22386	0.039	T	0.63368	-0.6653	10	0.28530	T	0.3	.	2.2856	0.04125	0.1315:0.3699:0.2686:0.23	.	192	Q8IUA0	WFDC8_HUMAN	G	192	ENSP00000361735:R192G;ENSP00000289953:R192G	ENSP00000289953:R192G	R	-	1	2	WFDC8	43615201	0.000000	0.05858	0.002000	0.10522	0.104000	0.19210	-1.773000	0.01786	-0.828000	0.04273	0.533000	0.62120	AGG		0.502	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1		
TPTE	7179	broad.mit.edu	37	21	10951271	10951271	+	Silent	SNP	T	T	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr21:10951271T>A	ENST00000361285.4	-	10	770	c.441A>T	c.(439-441)gtA>gtT	p.V147V	TPTE_ENST00000342420.5_Silent_p.V109V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Silent_p.V129V	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	147					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTACCTTTCTACAAATACTC	0.358																																						uc002yip.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(439-441)gtA>gtT		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.							60.0	65.0	63.0					21																	10951271		2202	4298	6500	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951271T>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.441A>T	21.37:g.10951271T>A						TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.V129V|TPTE_uc002yir.1_Silent_p.V109V|TPTE_uc010gkv.1_Silent_p.V9V	p.V147V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	809	-			147					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.441A>T	CCDS13560.2																																																																																				0.358	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
PLCD1	5333	broad.mit.edu	37	3	38052749	38052749	+	Missense_Mutation	SNP	G	G	A	rs372208980		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:38052749G>A	ENST00000334661.4	-	5	968	c.746C>T	c.(745-747)gCg>gTg	p.A249V	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.A270V	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	249					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GAGGGCCAGCGCAGGCCCTGC	0.687																																						uc003chm.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(808-810)gCg>gTg		Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.							34.0	36.0	35.0					3																	38052749		2203	4299	6502	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38052749G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.746C>T	3.37:g.38052749G>A	ENSP00000335600:p.Ala249Val					PLCD1_uc003chn.3_Missense_Mutation_p.A249V	p.A270V	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	4	1163	-			249					B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.809C>T	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	8.459	0.854833	0.17106	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.17854	2.25;2.25	4.95	2.92	0.33932	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.491533	0.24048	N	0.042028	T	0.09379	0.0231	L	0.31752	0.955	0.09310	N	1	B;B	0.27316	0.175;0.057	B;B	0.19946	0.027;0.022	T	0.16928	-1.0386	10	0.36615	T	0.2	.	2.6607	0.05026	0.0948:0.1438:0.3679:0.3935	.	249;270	P51178;B3KR14	PLCD1_HUMAN;.	V	270;249	ENSP00000430344:A270V;ENSP00000335600:A249V	ENSP00000335600:A249V	A	-	2	0	PLCD1	38027753	0.007000	0.16637	0.023000	0.16930	0.446000	0.32137	1.354000	0.34056	1.342000	0.45619	0.655000	0.94253	GCG		0.687	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2		
CX3CR1	1524	broad.mit.edu	37	3	39307436	39307436	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:39307436C>T	ENST00000541347.1	-	2	804	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	CX3CR1_ENST00000542107.1_Missense_Mutation_p.V189M|CX3CR1_ENST00000399220.2_Missense_Mutation_p.V189M|CX3CR1_ENST00000358309.3_Missense_Mutation_p.V221M	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	189					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTGCGGAGCACGGGCCAGATT	0.483																																						uc021wwc.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(661-663)Gtg>Atg		Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.							105.0	105.0	105.0					3																	39307436		1901	4114	6015	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307436C>T	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.565G>A	3.37:g.39307436C>T	ENSP00000439140:p.Val189Met					CX3CR1_uc021wwa.1_Missense_Mutation_p.V189M|CX3CR1_uc021wwb.1_Missense_Mutation_p.V189M|CX3CR1_uc003cjl.3_Missense_Mutation_p.V189M|CX3CR1_uc021wwd.1_Missense_Mutation_p.V189M	p.V221M	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	1	701	-			189					A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.661G>A	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.763018	0.31228	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.62	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.666605	0.15395	N	0.264625	T	0.42562	0.1208	L	0.53729	1.69	0.20307	N	0.999915	D	0.60575	0.988	P	0.54100	0.742	T	0.16867	-1.0388	10	0.33940	T	0.23	.	8.2146	0.31503	0.1536:0.7652:0.0:0.0811	.	189	P49238	CX3C1_HUMAN	M	189;197;221;189;189	ENSP00000382166:V189M;ENSP00000351059:V221M;ENSP00000439140:V189M;ENSP00000444928:V189M	ENSP00000351059:V221M	V	-	1	0	CX3CR1	39282440	0.000000	0.05858	0.546000	0.28166	0.584000	0.36387	0.028000	0.13644	1.329000	0.45376	0.655000	0.94253	GTG		0.483	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337	
CLEC3B	7123	broad.mit.edu	37	3	45077251	45077251	+	Silent	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:45077251C>T	ENST00000296130.4	+	3	624	c.444C>T	c.(442-444)acC>acT	p.T148T	CLEC3B_ENST00000428034.1_Silent_p.T106T|CLEC3B_ENST00000490386.1_3'UTR|RNU5B-3P_ENST00000516601.1_RNA	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	148	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	TGGACATGACCGGCGCCCGCA	0.667																																					GBM(139;1487 3263 30871)	uc003cok.4																			0				endometrium(1)|lung(3)	4						c.(442-444)acC>acT		Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						37.0	38.0	38.0					3																	45077251		2203	4300	6503	SO:0001819	synonymous_variant	7123				skeletal system development	extracellular space	protein binding|sugar binding	g.chr3:45077251C>T		CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"""C-type lectin domain containing"""	11891	protein-coding gene	gene with protein product		187520	"""tetranectin (plasminogen binding protein)"""	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.444C>T	3.37:g.45077251C>T							p.T148T	NM_003278	NP_003269	P05452	TETN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	2	540	+			148			C-type lectin.		Q6FGX6	Silent	SNP	ENST00000296130.4	37	c.444C>T	CCDS2726.1																																																																																				0.667	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256745.1	NM_003278	
ARMC8	25852	broad.mit.edu	37	3	137991889	137991889	+	Silent	SNP	A	A	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:137991889A>G	ENST00000469044.1	+	17	1831	c.1560A>G	c.(1558-1560)ttA>ttG	p.L520L	NME9_ENST00000484930.1_Intron|NME9_ENST00000536478.1_Intron|NME9_ENST00000317876.4_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000538260.1_Silent_p.L489L|ARMC8_ENST00000461822.1_Silent_p.L453L|ARMC8_ENST00000485396.1_Silent_p.L447L|ARMC8_ENST00000491704.1_Silent_p.L478L|ARMC8_ENST00000481646.1_Silent_p.L506L|ARMC8_ENST00000393058.3_Silent_p.L510L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	520										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TCCGGTTATTATCAGATTCAG	0.368																																						uc003esa.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1516-1518)ttA>ttG		Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.							122.0	116.0	118.0					3																	137991889		1829	4089	5918	SO:0001819	synonymous_variant	25852						binding	g.chr3:137991889A>G		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1560A>G	3.37:g.137991889A>G						NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.L489L|ARMC8_uc011bmg.1_Silent_p.L453L|ARMC8_uc011bmh.1_Silent_p.L447L|ARMC8_uc003esb.1_Silent_p.L478L|ARMC8_uc003esc.1_Silent_p.L278L|ARMC8_uc003esf.1_Silent_p.L89L	p.L506L	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN			17	1885	+			520					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	37	c.1518A>G																																																																																					0.368	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						uc003fuw.3																			0											c.(22-24)ccA>ccG		Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																																						727956							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G						SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript	p.P8P							8	1218	+									Silent	SNP	ENST00000445430.1	37	c.24A>G																																																																																					0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
TEC	7006	broad.mit.edu	37	4	48140944	48140944	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr4:48140944C>T	ENST00000381501.3	-	16	1788	c.1631G>A	c.(1630-1632)aGc>aAc	p.S544N	TEC_ENST00000511471.2_5'Flank	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	544	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATCTGATTTGCTGCTGAAGCG	0.438																																						uc003gxz.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1630-1632)aGc>aAc		Homo sapiens tec protein tyrosine kinase (TEC), mRNA.							105.0	92.0	97.0					4																	48140944		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48140944C>T	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1631G>A	4.37:g.48140944C>T	ENSP00000370912:p.Ser544Asn						p.S544N	NM_003215	NP_003206	P42680	TEC_HUMAN			15	1722	-			544			Protein kinase.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.1631G>A	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276697	0.95459	.	.	ENSG00000135605	ENST00000381501	D	0.83419	-1.72	5.63	5.63	0.86233	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	L	0.39692	1.235	0.53688	D	0.999975	P	0.43431	0.807	P	0.46049	0.502	T	0.83072	-0.0142	10	0.52906	T	0.07	.	20.0471	0.97613	0.0:1.0:0.0:0.0	.	544	P42680	TEC_HUMAN	N	544	ENSP00000370912:S544N	ENSP00000370912:S544N	S	-	2	0	TEC	47835701	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.959000	0.70339	2.815000	0.96918	0.561000	0.74099	AGC		0.438	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3		
KIAA0922	23240	broad.mit.edu	37	4	154517485	154517485	+	Missense_Mutation	SNP	G	G	A	rs369720504		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr4:154517485G>A	ENST00000409663.3	+	20	2120	c.2068G>A	c.(2068-2070)Gta>Ata	p.V690I	KIAA0922_ENST00000409959.3_Missense_Mutation_p.V691I|KIAA0922_ENST00000440693.1_Missense_Mutation_p.V607I	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	690						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAGGGTTGGCGTAGTTTTCAC	0.423																																						uc010ipp.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2071-2073)Gta>Ata		Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	183.0	161.0	169.0		2071,2068	5.6	0.9	4		169	0,8600		0,0,4300	no	missense,missense	KIAA0922	NM_001131007.1,NM_015196.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	691/1611,690/1610	154517485	1,13005	2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154517485G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2068G>A	4.37:g.154517485G>A	ENSP00000386574:p.Val690Ile					KIAA0922_uc003inm.4_Missense_Mutation_p.V690I|KIAA0922_uc010ipq.3_Missense_Mutation_p.V459I	p.V691I	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN			19	2123	+	all_hematologic(180;0.093)	Renal(120;0.118)	690					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.2071G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799226	0.90538	2.27E-4	0.0	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.26373	2.07;1.74;2.07;1.75	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.994;0.998;0.932	T	0.37663	-0.9696	10	0.31617	T	0.26	-16.5468	18.3004	0.90162	0.0:0.0:1.0:0.0	.	607;691;690	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	I	690;607;691;468	ENSP00000386574:V690I;ENSP00000409663:V607I;ENSP00000386787:V691I;ENSP00000240487:V468I	ENSP00000240487:V468I	V	+	1	0	KIAA0922	154736935	1.000000	0.71417	0.890000	0.34922	0.871000	0.50021	7.673000	0.83973	2.630000	0.89119	0.591000	0.81541	GTA		0.423	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
KIAA0825	285600	broad.mit.edu	37	5	93856069	93856069	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr5:93856069T>G	ENST00000329378.7	-	5	1103	c.854A>C	c.(853-855)gAa>gCa	p.E285A	KIAA0825_ENST00000513200.3_Missense_Mutation_p.E285A|KIAA0825_ENST00000312498.7_Missense_Mutation_p.E285A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.E285A	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	285										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TGCCATTTCTTCTGTAACAGT	0.348																																						uc011cuk.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(853-855)gAa>gCa		Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.							47.0	49.0	48.0					5																	93856069		2203	4298	6501	SO:0001583	missense	285600							g.chr5:93856069T>G	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.854A>C	5.37:g.93856069T>G	ENSP00000331385:p.Glu285Ala					KIAA0825_uc003kkp.2_Missense_Mutation_p.E285A	p.E285A	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN			4	1111	-			285					O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000329378.7	37	c.854A>C	CCDS4070.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.574304	0.65878	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;D;D	0.85773	0.75;0.75;-2.03;-2.03	5.34	5.34	0.76211	.	0.058043	0.64402	D	0.000002	D	0.90752	0.7097	M	0.62723	1.935	0.36935	D	0.892086	D;D	0.89917	0.998;1.0	D;D	0.85130	0.96;0.997	D	0.93371	0.6735	10	0.87932	D	0	.	13.8902	0.63733	0.0:0.0:0.0:1.0	.	285;285	Q8IV33;Q8IV33-2	K0825_HUMAN;.	A	285	ENSP00000424618:E285A;ENSP00000400288:E285A;ENSP00000312205:E285A;ENSP00000331385:E285A	ENSP00000312205:E285A	E	-	2	0	KIAA0825	93881825	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.425000	0.59875	2.023000	0.59567	0.377000	0.23210	GAA		0.348	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665	
CYP21A2	1589	broad.mit.edu	37	6	32006249	32006249	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr6:32006249G>A	ENST00000418967.2	+	1	208	c.50G>A	c.(49-51)cGc>cAc	p.R17H	CYP21A2_ENST00000435122.2_Missense_Mutation_p.R17H|C4B-AS1_ENST00000415626.1_RNA	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	0					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	GCTGGCGCCCGCCTGCTGTGG	0.677																																					Melanoma(174;1669 1998 3915 34700 46447)	uc003nze.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						c.(49-51)cGc>cAc		Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.							4.0	5.0	5.0					6																	32006249		1451	2610	4061	SO:0001583	missense	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:32006249G>A	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.50G>A	6.37:g.32006249G>A	ENSP00000408860:p.Arg17His					CYP21A2_uc003nzf.2_Missense_Mutation_p.R17H	p.R17H	NM_000500	NP_000491	P08686	CP21A_HUMAN			0	157	+			16					A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	ENST00000418967.2	37	c.50G>A	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922895	0.33908	.	.	ENSG00000231852	ENST00000418967;ENST00000478281;ENST00000471671;ENST00000435122	T;T;T;T	0.81078	-0.49;-1.45;-0.11;-0.61	4.5	-0.976	0.10286	.	0.729658	0.11831	N	0.525209	T	0.38401	0.1039	N	0.24115	0.695	0.09310	N	0.99999	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.19712	-1.0297	10	0.17369	T	0.5	.	3.6436	0.08176	0.4115:0.0:0.4178:0.1707	.	17;17	Q5ST44;Q16874	.;.	H	17	ENSP00000408860:R17H;ENSP00000419572:R17H;ENSP00000418561:R17H;ENSP00000415043:R17H	ENSP00000408860:R17H	R	+	2	0	CYP21A2	32114228	0.004000	0.15560	0.664000	0.29753	0.618000	0.37518	0.074000	0.14662	0.041000	0.15688	0.462000	0.41574	CGC		0.677	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500	
COL12A1	1303	broad.mit.edu	37	6	75797410	75797410	+	Missense_Mutation	SNP	G	G	A	rs200901687	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr6:75797410G>A	ENST00000322507.8	-	65	9373	c.9064C>T	c.(9064-9066)Ccc>Tcc	p.P3022S	COL12A1_ENST00000416123.2_Missense_Mutation_p.P2946S|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1858S|COL12A1_ENST00000483888.2_Missense_Mutation_p.P3018S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3022	Triple-helical region (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.P3022T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGCCAGGGGGACCTCTTGAA	0.522													G|||	3	0.000599042	0.0015	0.0	5008	,	,		17481	0.001		0.0	False		,,,				2504	0.0					uc021zbv.1																			1	Substitution - Missense(1)	p.P3022T(2)	upper_aerodigestive_tract(1)	breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(9064-9066)Ccc>Tcc		Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.		G	SER/PRO,SER/PRO	12,3754		0,12,1871	75.0	83.0	80.0		9064,5572	5.8	1.0	6		80	0,8194		0,0,4097	yes	missense,missense	COL12A1	NM_004370.5,NM_080645.2	74,74	0,12,5968	AA,AG,GG		0.0,0.3186,0.1003	probably-damaging,probably-damaging	3022/3064,1858/1900	75797410	12,11948	1883	4097	5980	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75797410G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.9064C>T	6.37:g.75797410G>A	ENSP00000325146:p.Pro3022Ser					COL12A1_uc021zbw.1_Missense_Mutation_p.P1858S|COL12A1_uc003phs.3_Missense_Mutation_p.P3022S|COL12A1_uc003pht.3_Missense_Mutation_p.P1858S	p.P3022S	NM_004370	NP_004361	Q99715	COCA1_HUMAN			63	9099	-			3022			Triple-helical region (COL1) with 2 imperfections.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.9064C>T	CCDS43482.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.5	4.421010	0.83559	0.003186	0.0	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.93247	-2.37;-3.19;-2.43;-2.38;-2.46	5.75	5.75	0.90469	.	0.115867	0.64402	D	0.000017	D	0.91771	0.7397	L	0.56199	1.76	0.48571	D	0.999671	P;P	0.51537	0.946;0.615	P;B	0.46253	0.509;0.158	D	0.91424	0.5161	10	0.48119	T	0.1	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	1858;3022	Q99715-2;Q99715	.;COCA1_HUMAN	S	3022;660;2946;1858;2946;3018	ENSP00000325146:P3022S;ENSP00000399812:P660S;ENSP00000305147:P1858S;ENSP00000412864:P2946S;ENSP00000421216:P3018S	ENSP00000325146:P3022S	P	-	1	0	COL12A1	75854130	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	7.639000	0.83342	2.719000	0.93026	0.655000	0.94253	CCC		0.522	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
MEST	4232	broad.mit.edu	37	7	130139717	130139717	+	Splice_Site	SNP	T	T	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr7:130139717T>A	ENST00000223215.4	+	7	758	c.537T>A	c.(535-537)ggT>ggA	p.G179G	MEST_ENST00000437945.1_Splice_Site_p.G179G|MEST_ENST00000378576.4_Splice_Site_p.G170G|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Splice_Site_p.G170G|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000416162.2_Splice_Site_p.G170G|MEST_ENST00000341441.5_Splice_Site_p.G170G	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	179					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CTTCTACAGGTATCTTTCCTG	0.413																																					Colon(126;2182 2305 6517 35181)	uc003vqg.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12						c.e7-1		Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.							106.0	95.0	98.0					7																	130139717		2203	4300	6503	SO:0001630	splice_region_variant	4232				mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130139717T>A		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.536-1T>A	7.37:g.130139717T>A						MEST_uc003vqc.3_Splice_Site_p.G170_splice|MEST_uc003vqd.3_Splice_Site_p.G170_splice|MEST_uc022alp.1_Splice_Site_p.G170_splice|MEST_uc003vqf.3_Splice_Site_p.G170_splice|MEST_uc011kph.2_Splice_Site_p.G165_splice	p.G179_splice	NM_002402	NP_002393	Q5EB52	MEST_HUMAN			7	792	+	Melanoma(18;0.0435)		179					B2R6S1|O14973|O15007|Q6AI49|Q92571	Silent	SNP	ENST00000223215.4	37	c.536_splice	CCDS5822.1																																																																																				0.413	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402	Silent
OR2F2	135948	broad.mit.edu	37	7	143632696	143632696	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr7:143632696T>G	ENST00000408955.2	+	1	438	c.371T>G	c.(370-372)gTg>gGg	p.V124G		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GACCGCCATGTGGCTGTGTCT	0.562																																						uc011ktv.2																			0		p.H123Y(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(370-372)gTg>gGg		Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.							121.0	109.0	113.0					7																	143632696		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632696T>G		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.371T>G	7.37:g.143632696T>G	ENSP00000386222:p.Val124Gly						p.V124G	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			0	371	+	Melanoma(164;0.0903)		124					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.371T>G	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.219465	0.39201	.	.	ENSG00000221910	ENST00000408955	T	0.01464	4.86	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000270	T	0.06645	0.0170	H	0.95004	3.61	0.54753	D	0.99998	P	0.38335	0.627	B	0.39771	0.309	T	0.00668	-1.1618	10	0.87932	D	0	-33.8709	10.6227	0.45489	0.0:0.0:0.0:1.0	.	124	O95006	OR2F2_HUMAN	G	124	ENSP00000386222:V124G	ENSP00000386222:V124G	V	+	2	0	OR2F2	143263629	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	4.013000	0.57138	1.664000	0.50801	0.402000	0.26972	GTG		0.562	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1		
FBXO32	114907	broad.mit.edu	37	8	124518764	124518764	+	Silent	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr8:124518764C>T	ENST00000517956.1	-	7	893	c.702G>A	c.(700-702)ctG>ctA	p.L234L	FBXO32_ENST00000443022.2_Silent_p.L141L	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	234	F-box.				cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCATGATGTTCAGTTGTAGGC	0.622																																						uc003yqr.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21						c.(700-702)ctG>ctA		Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA.							75.0	68.0	70.0					8																	124518764		2203	4300	6503	SO:0001819	synonymous_variant	114907							g.chr8:124518764C>T	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.702G>A	8.37:g.124518764C>T						FBXO32_uc003yqp.2_Silent_p.L89L|FBXO32_uc010mdk.3_Silent_p.L141L	p.L234L	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	941	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		234			F-box.		A4KYM0	Silent	SNP	ENST00000517956.1	37	c.702G>A	CCDS6345.1																																																																																				0.622	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1		
TEK	7010	broad.mit.edu	37	9	27206739	27206739	+	Missense_Mutation	SNP	C	C	T	rs147231791		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr9:27206739C>T	ENST00000380036.4	+	15	2966	c.2524C>T	c.(2524-2526)Cgc>Tgc	p.R842C	TEK_ENST00000406359.4_Missense_Mutation_p.R799C|TEK_ENST00000519097.1_Missense_Mutation_p.R694C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTTAAGGCGCGCATCAAGAA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		19571	0.001		0.0	False		,,,				2504	0.0					uc011lno.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2395-2397)Cgc>Tgc		Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.							77.0	69.0	72.0					9																	27206739		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27206739C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2524C>T	9.37:g.27206739C>T	ENSP00000369375:p.Arg842Cys					TEK_uc003zqi.4_Missense_Mutation_p.R842C|TEK_uc011lnp.2_Missense_Mutation_p.R694C|TEK_uc003zqj.1_Missense_Mutation_p.R776C	p.R799C	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	13	2837	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	842					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2395C>T	CCDS6519.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.2	3.950270	0.73787	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.70749	-0.51;-0.51;-0.51	5.9	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000097	T	0.80954	0.4723	L	0.52364	1.645	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	P;D;D;D	0.87578	0.797;0.962;0.916;0.998	T	0.82800	-0.0278	10	0.66056	D	0.02	.	16.5583	0.84512	0.1315:0.8685:0.0:0.0	.	694;875;799;842	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	C	694;842;799	ENSP00000430686:R694C;ENSP00000369375:R842C;ENSP00000383977:R799C	ENSP00000369375:R842C	R	+	1	0	TEK	27196739	0.997000	0.39634	0.840000	0.33206	0.942000	0.58702	3.784000	0.55416	1.500000	0.48636	0.637000	0.83480	CGC		0.453	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
SPATA31D1	389763	broad.mit.edu	37	9	84607173	84607173	+	Silent	SNP	A	A	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr9:84607173A>G	ENST00000344803.2	+	4	1835	c.1788A>G	c.(1786-1788)ctA>ctG	p.L596L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	596					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTAGTCCTCTATTCCTGATTA	0.512																																						uc004amn.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						c.(1786-1788)ctA>ctG		Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.							121.0	111.0	115.0					9																	84607173		1910	4125	6035	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84607173A>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1788A>G	9.37:g.84607173A>G							p.L596L	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			3	1835	+			596						Silent	SNP	ENST00000344803.2	37	c.1788A>G	CCDS47986.1																																																																																				0.512	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
