#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
CXorf56	63932	broad.mit.edu	37	X	118678401	118678405	+	Frame_Shift_Del	DEL	AAGGT	AAGGT	-			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:118678401_118678405delAAGGT	ENST00000371594.4	-	4	412_416	c.334_338delACCTT	c.(334-339)accttcfs	p.TF112fs	CXorf56_ENST00000320339.4_Frame_Shift_Del_p.TF63fs|CXorf56_ENST00000536133.1_Frame_Shift_Del_p.TF98fs|CXorf56_ENST00000469448.1_5'Flank	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	112										cervix(1)|endometrium(2)|lung(7)	10						ATCCACAATGAAGGTAACAGGAGCA	0.444																																						ENST00000371594.4	0.150000	4.000000e-02	1.300000e-01	6.000000e-02	0.090000	0.100816	0.090000	0.100000																										0				10						c.(334-339)accttcfs		chromosome X open reading frame 56																																				SO:0001589	frameshift_variant	63932	0	0					g.chrX:118678401_118678405delAAGGT	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.334_338delACCTT	chrX.hg19:g.118678401_118678405delAAGGT	ENSP00000360652:p.Thr112fs						CXorf56_ENST00000469448.1_5'Flank|CXorf56_ENST00000320339.4_Frame_Shift_Del_p.TF63fs|CXorf56_ENST00000536133.1_Frame_Shift_Del_p.TF98fs	p.TF112fs	NM_022101.3	NP_071384.1	0	1	1		Q9H5V9	CX056_HUMAN		4	412_416	-			A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Frame_Shift_Del	DEL	ENST00000371594.4	1	1	hg19	c.334_338delACCTT	CCDS14579.1	0																																																																																								0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.444	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		37	2		0	0	0	8	314	0	314	316	1	1.800000	-3.325553	1	0.370000	NM_022101		0	15	52	0	839	852	0	0	1	0		0	0	314	0	0	0.002627	3.251207e-02		0	0	15	0	15	839
ANKRD30A	91074	broad.mit.edu	37	10	37478443	37478443	+	Missense_Mutation	SNP	A	A	G	rs199828555	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr10:37478443A>G	ENST00000602533.1	+	25	2401	c.2302A>G	c.(2302-2304)Acg>Gcg	p.T768A	ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T887A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	824					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T768A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCCAAGGCTACGCATCAAAA	0.289													.|||	43	0.00858626	0.0098	0.0086	5008	,	,		14201	0.005		0.0179	False		,,,				2504	0.001					ENST00000602533.1			0	0																														2	Substitution - Missense(2)	p.T768A(2)	urinary_tract(1)|kidney(1)	158						c.(2302-2304)Acg>Gcg		ankyrin repeat domain 30A							13.0	10.0	11.0					10																	37478443		386	1018	1404	SO:0001583	missense	91074	67	28116	39				g.chr10:37478443A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2302A>G	chr10.hg19:g.37478443A>G	ENSP00000473551:p.Thr768Ala						ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T887A|ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A	p.T768A							Q9BXX3	AN30A_HUMAN		25	2401	+			Q5W025	Missense_Mutation	SNP	ENST00000602533.1	0	1	hg19	c.2302A>G			.	.	.	.	.	.	.	.	.	.	.	2.496	-0.316242	0.05422	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06068	3.35;3.35	0.746	-1.49	0.08718	0.746	-1.49	0.08718	.	.	.	.	.	T	0.08447	0.0210	L	0.46157	1.445	0.09310	N	1	P	0.40332	0.713	P	0.48654	0.585	T	0.28235	-1.0050	9	0.31617	T	0.26	.	4.1534	0.10249	0.4946:0.0:0.5054:0.0	.	824	Q9BXX3	AN30A_HUMAN	A	768;887	ENSP00000354432:T768A;ENSP00000363792:T887A	ENSP00000354432:T768A	T	+	1	0	0	ANKRD30A	37518449	37518449	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.108000	0.10857	-0.775000	0.04584	-0.537000	0.04273	ACG			TCGA-3A-A9IC-01A-11D-A38G-08	0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	0	0	1	2	3	2	2	1	1	1	1	164	164	164	190	1	1.800000	-2.828683	1	0.370000	NM_052997		0	5	5	0	294	60	0		1			1	0	164	0	0	0.154868	0	0	0	0	0	0	5	294
SMPD1	6609	broad.mit.edu	37	11	6413007	6413007	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:6413007G>A	ENST00000342245.4	+	2	880	c.712G>A	c.(712-714)Gca>Aca	p.A238T	SMPD1_ENST00000527275.1_Missense_Mutation_p.A237T|SMPD1_ENST00000299397.3_Missense_Mutation_p.A238T|SMPD1_ENST00000356761.2_Missense_Mutation_p.A238T|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	236					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	CCTGCCGCCCGCATCCCGGCC	0.672																																						ENST00000342245.4	0.210000	3.000000e-02	1.500000e-01	6.000000e-02	0.100000	0.111911	0.100000	0.100000																										0				23						c.(712-714)Gca>Aca		sphingomyelin phosphodiesterase 1, acid lysosomal	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)						42.0	51.0	48.0					11																	6413007		2201	4296	6497	SO:0001583	missense	6609	2	121370	32				g.chr11:6413007G>A	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.712G>A	chr11.hg19:g.6413007G>A	ENSP00000340409:p.Ala238Thr	0					SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Missense_Mutation_p.A238T|SMPD1_ENST00000299397.3_Missense_Mutation_p.A238T|SMPD1_ENST00000527275.1_Missense_Mutation_p.A237T	p.A238T	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	0	0	0	2.065711	P17405	ASM_HUMAN		2	880	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	0	1	hg19	c.712G>A	CCDS44531.1	0	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158173	0.01686	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.10288	2.9;2.91;2.89;2.9	5.15	-1.88	0.07713	5.15	-1.88	0.07713	Metallophosphoesterase domain (1);	1.029790	0.07657	N	0.932959	T	0.04907	0.0132	N	0.17800	0.525	0.09310	N	1	B;B;B	0.15141	0.007;0.012;0.009	B;B;B	0.09377	0.003;0.004;0.004	T	0.45264	-0.9273	10	0.11182	T	0.66	-34.8036	1.7151	0.02900	0.4933:0.1325:0.2251:0.1491	.	237;238;236	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	T	238;238;238;237	ENSP00000299397:A238T;ENSP00000349203:A238T;ENSP00000340409:A238T;ENSP00000435350:A237T	ENSP00000299397:A238T	A	+	1	0	0	SMPD1	6369583	6369583	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	-1.087000	0.03383	0.025000	0.15241	-0.345000	0.07892	GCA	0.367660		TCGA-3A-A9IC-01A-11D-A38G-08	0.672	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	0	0	1	2	2	2	2	0	0	0	0	129	129	129	129	1	1.800000	-2.317662	0	0.370000	NM_000543		0	5	5	0	280	272	0		1	0		0	0	129	0	0	0.933299	3.694428e-01	0	0	0	63	0	5	280
PRDM11	56981	broad.mit.edu	37	11	45246046	45246046	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:45246046G>A	ENST00000530656.1	+	7	1123	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	PRDM11_ENST00000263765.4_Missense_Mutation_p.A375T|PRDM11_ENST00000424263.2_Missense_Mutation_p.A341T|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	375							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGGATGACGCCTACAGTCA	0.577																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000530656.1	1.000000	8.400000e-01	1	9.100000e-01	0.990000	0.970539	0.990000	1.000000																										0				26						c.(1123-1125)Gcc>Acc		PR domain containing 11							114.0	119.0	117.0					11																	45246046		2203	4299	6502	SO:0001583	missense	56981	0	0					g.chr11:45246046G>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1123G>A	chr11.hg19:g.45246046G>A	ENSP00000435976:p.Ala375Thr	0					CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A341T|PRDM11_ENST00000263765.4_Missense_Mutation_p.A375T	p.A375T			0	0	0	2.065711	Q9NQV5	PRD11_HUMAN		7	1123	+			Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	1	1	hg19	c.1123G>A		1	.	.	.	.	.	.	.	.	.	.	G	7.057	0.565572	0.13560	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.23950	1.88;1.88;1.89	5.41	1.86	0.25419	5.41	1.86	0.25419	.	0.907108	0.09408	N	0.806162	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.33904	-0.9850	10	0.26408	T	0.33	-5.4388	9.0019	0.36088	0.4604:0.0:0.5395:0.0	.	375	Q9NQV5	PRD11_HUMAN	T	375;375;341	ENSP00000263765:A375T;ENSP00000435976:A375T;ENSP00000394314:A341T	ENSP00000263765:A375T	A	+	1	0	0	PRDM11	45202622	45202622	0.000000	0.05858	0.102000	0.21198	0.199000	0.23934	0.211000	0.17474	0.187000	0.20147	0.558000	0.71614	GCC	0.367660		TCGA-3A-A9IC-01A-11D-A38G-08	0.577	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	1	0	1	2	2	2	2	0	0	0	0	207	207	207	202	1	1.800000	-20.000000	1	0.370000	NM_020229		0	127	126	0	555	546	1		1	0		0	0	207	0	0	1.000000	0	0	0	0	1	0	127	555
TMX2	51075	broad.mit.edu	37	11	57506679	57506679	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:57506679C>T	ENST00000278422.4	+	7	703	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	RP11-691N7.6_ENST00000531074.1_5'Flank|C11orf31_ENST00000534355.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Missense_Mutation_p.R193W|C11orf31_ENST00000388857.4_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	231	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAGGCAATGCGGCGGCCACA	0.547																																						ENST00000278422.4	0.120000	1.000000e-02	9.000000e-02	3.000000e-02	0.050000	0.066898	0.050000	0.060000																										0				12						c.(691-693)Cgg>Tgg		thioredoxin-related transmembrane protein 2							125.0	114.0	118.0					11																	57506679		2201	4296	6497	SO:0001583	missense	51075	2	121412	36				g.chr11:57506679C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.691C>T	chr11.hg19:g.57506679C>T	ENSP00000278422:p.Arg231Trp	0					C11orf31_ENST00000534355.1_5'Flank|RP11-691N7.6_ENST00000531074.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000388857.4_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.R193W	p.R231W	NM_015959.3	NP_057043.1	0	0	0	2.065711	Q9Y320	TMX2_HUMAN		7	703	+			B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	0	1	hg19	c.691C>T	CCDS7967.1	0	.	.	.	.	.	.	.	.	.	.	C	19.30	3.802031	0.70682	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.28666	1.6;1.6	5.49	4.55	0.56014	5.49	4.55	0.56014	Thioredoxin-like fold (3);	0.067156	0.56097	U	0.000038	T	0.62245	0.2412	M	0.91354	3.2	0.80722	D	1	P;D	0.89917	0.927;1.0	P;D	0.97110	0.504;1.0	T	0.70288	-0.4913	9	.	.	.	-13.4074	13.1262	0.59356	0.2872:0.7128:0.0:0.0	.	193;231	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	W	193;231	ENSP00000367562:R193W;ENSP00000278422:R231W	.	R	+	1	2	2	TMX2	57263255	57263255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.049000	0.49869	2.583000	0.87209	0.561000	0.74099	CGG	0.367660		TCGA-3A-A9IC-01A-11D-A38G-08	0.547	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	0	0	1	2	2	2	2	0	0	0	0	170	170	170	164	1	1.800000	-2.006247	0	0.370000	NM_015959		0	6	6	0	554	537	0		1	0		0	0	170	0	0	0.961654	6.917176e-01	0	0	0	212	0	6	554
CD6	923	broad.mit.edu	37	11	60777109	60777109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:60777109C>T	ENST00000313421.7	+	5	1033	c.847C>T	c.(847-849)Cga>Tga	p.R283*	CD6_ENST00000346437.4_Nonsense_Mutation_p.R283*|CD6_ENST00000344028.5_Nonsense_Mutation_p.R283*|CD6_ENST00000352009.5_Nonsense_Mutation_p.R283*|CD6_ENST00000545105.1_Intron|CD6_ENST00000452451.2_Nonsense_Mutation_p.R283*	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	283	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGTACACTTCCGAGGGGTCTG	0.642																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7	0.280000	4.000000e-02	2.100000e-01	8.000000e-02	0.130000	0.149774	0.130000	0.130000																										0				18						c.(847-849)Cga>Tga		CD6 molecule							72.0	60.0	64.0					11																	60777109		2203	4299	6502	SO:0001587	stop_gained	923	5	121410	36				g.chr11:60777109C>T		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.847C>T	chr11.hg19:g.60777109C>T	ENSP00000323280:p.Arg283*	0					CD6_ENST00000452451.2_Nonsense_Mutation_p.R283*|CD6_ENST00000352009.5_Nonsense_Mutation_p.R283*|CD6_ENST00000344028.5_Nonsense_Mutation_p.R283*|CD6_ENST00000346437.4_Nonsense_Mutation_p.R283*|CD6_ENST00000545105.1_Intron	p.R283*	NM_006725.4	NP_006716.3	0	0	0	2.065711	P30203	CD6_HUMAN		5	1033	+			A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Nonsense_Mutation	SNP	ENST00000313421.7	0	1	hg19	c.847C>T	CCDS7999.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.312432	0.95655	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000452451;ENST00000352009	.	.	.	4.76	4.76	0.60689	4.76	4.76	0.60689	.	0.215583	0.30210	N	0.010146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3344	0.90282	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000323280:R283X	R	+	1	2	2	CD6	60533685	60533685	0.000000	0.05858	0.954000	0.39281	0.729000	0.41735	0.300000	0.19156	2.575000	0.86900	0.555000	0.69702	CGA	0.367660		TCGA-3A-A9IC-01A-11D-A38G-08	0.642	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	0	0	1	2	2	2	2	0	0	0	0	90	90	90	90	1	1.800000	-3.037441	1	0.370000	NM_006725		0	5	5	0	207	200	0		1	0		0	0	90	0	0	0.932625	8.473045e-03	0	0	0	5	0	5	207
SLC22A11	55867	broad.mit.edu	37	11	64329557	64329557	+	Missense_Mutation	SNP	C	C	A	rs554874803		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:64329557C>A	ENST00000301891.4	+	3	953	c.579C>A	c.(577-579)ttC>ttA	p.F193L	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000377585.3_Missense_Mutation_p.F193L	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	193					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CCCCAACATTCGTCATCTACT	0.617											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000301891.4	1.000000	8.300000e-01	1	9.400000e-01	0.990000	0.979147	0.990000	1.000000																										0				23						c.(577-579)ttC>ttA		solute carrier family 22 (organic anion/urate transporter), member 11	Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)						61.0	55.0	57.0					11																	64329557		2201	4297	6498	SO:0001583	missense	55867	1	121408	34				g.chr11:64329557C>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.579C>A	chr11.hg19:g.64329557C>A	ENSP00000301891:p.Phe193Leu	0		OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1075	SLC22A11_ENST00000377585.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.F193L	p.F193L	NM_018484.2	NP_060954.1	0	0	0	2.065711	Q9NSA0	S22AB_HUMAN		3	953	+			A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	1	1	hg19	c.579C>A	CCDS8074.1	1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.419179	0.25552	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.58358	0.34;0.34;0.34	3.29	1.38	0.22167	3.29	1.38	0.22167	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.058354	0.64402	N	0.000002	T	0.47303	0.1438	L	0.45422	1.42	0.09310	N	1	P;P;P	0.51933	0.949;0.484;0.861	P;B;B	0.49140	0.601;0.315;0.446	T	0.36817	-0.9732	10	0.45353	T	0.12	.	8.0924	0.30807	0.0:0.7887:0.0:0.2113	.	193;193;193	Q9NSA0-2;A6NCG2;Q9NSA0	.;.;S22AB_HUMAN	L	193	ENSP00000301891:F193L;ENSP00000366809:F193L;ENSP00000366804:F193L	ENSP00000301891:F193L	F	+	3	2	2	SLC22A11	64086133	64086133	0.056000	0.20664	0.001000	0.08648	0.000000	0.00434	0.659000	0.24994	0.214000	0.20742	-1.547000	0.00903	TTC	0.367660		TCGA-3A-A9IC-01A-11D-A38G-08	0.617	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	1	0	1	2	2	2	2	0	0	0	0	112	112	112	108	1	1.800000	-20.000000	1	0.370000	NM_018484		0	57	55	0	230	225	1		1			0	0	112	0	0	1.000000	0	0	0	0	0	0	57	230
CTTN	2017	broad.mit.edu	37	11	70281225	70281225	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:70281225G>A	ENST00000301843.8	+	18	1816	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	CTTN_ENST00000376561.3_Splice_Site_p.R500H|CTTN_ENST00000346329.3_Missense_Mutation_p.R500Q|CTTN_ENST00000538675.1_Splice_Site_p.R221H	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	537	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGCAAGGGCCGGTACGGGCTC	0.627																																						ENST00000301843.8	0.320000	9.000000e-02	2.500000e-01	1.300000e-01	0.180000	0.196983	0.180000	0.180000																										0				31						c.(1609-1611)cGg>cAg		cortactin							57.0	52.0	53.0					11																	70281225		2200	4294	6494	SO:0001583	missense	2017	2	121412	32				g.chr11:70281225G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1610G>A	chr11.hg19:g.70281225G>A	ENSP00000301843:p.Arg537Gln	0					CTTN_ENST00000376561.3_Splice_Site_p.R500H|CTTN_ENST00000346329.3_Missense_Mutation_p.R500Q|CTTN_ENST00000538675.1_Splice_Site_p.R221H	p.R537Q	NM_005231.3	NP_005222.2	0	0	0	2.065711	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	18	1816	+			Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	0	1	hg19	c.1610G>A	CCDS41680.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.74|16.74	3.205660|3.205660	0.58234|0.58234	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000376561;ENST00000538675;ENST00000529736|ENST00000346329;ENST00000301843	T;T;T|T;T	0.50813|0.50277	0.73;0.73;0.73|0.75;0.75	5.82|5.82	3.95|3.95	0.45737|0.45737	5.82|5.82	3.95|3.95	0.45737|0.45737	.|Src homology-3 domain (5);	1.245650|1.245650	0.05460|0.05460	N|N	0.551019|0.551019	T|T	0.42471|0.42471	0.1204|0.1204	L|L	0.31526|0.31526	0.94|0.94	0.09310|0.09310	N|N	0.999994|0.999994	D;D|P;P	0.89917|0.49961	1.0;0.977|0.754;0.93	D;P|B;B	0.87578|0.44108	0.998;0.616|0.319;0.441	T|T	0.28933|0.28933	-1.0028|-1.0028	10|10	0.11794|0.29301	T|T	0.64|0.29	-8.3826|-8.3826	11.1574|11.1574	0.48495|0.48495	0.0662:0.0:0.8053:0.1285|0.0662:0.0:0.8053:0.1285	.|.	221;500|500;537	B4E358;Q8N707|Q96H99;Q14247	.;.|.;SRC8_HUMAN	H|Q	500;221;194|500;537	ENSP00000365745:R500H;ENSP00000439762:R221H;ENSP00000431421:R194H|ENSP00000317189:R500Q;ENSP00000301843:R537Q	ENSP00000365745:R500H|ENSP00000301843:R537Q	R|R	+|+	2|2	0|0	0|0	CTTN|CTTN	69958873|69958873	69958873|69958873	0.727000|0.727000	0.28069|0.28069	0.902000|0.902000	0.35471|0.35471	0.332000|0.332000	0.28634|0.28634	3.921000|3.921000	0.56454|0.56454	0.794000|0.794000	0.33899|0.33899	0.655000|0.655000	0.94253|0.94253	CGC|CGG	0.367660		TCGA-3A-A9IC-01A-11D-A38G-08	0.627	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	0	0	1	2	2	2	2	0	0	0	0	99	99	99	96	1	1.800000	-3.163455	1	0.370000	NM_138565		0	10	10	0	287	281	1		1	1		0	0	99	0	0	0.996687	9.997816e-01	0	52	0	415	0	10	287
OR10S1	219873	broad.mit.edu	37	11	123847671	123847671	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:123847671C>T	ENST00000531945.1	-	1	817	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R243H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGGGCTGTGCGGATGCGCAA	0.602																																						ENST00000531945.1	0.230000	3.000000e-02	1.700000e-01	7.000000e-02	0.110000	0.125370	0.110000	0.100000																										1	Substitution - Missense(1)	p.R243H(1)	endometrium(1)	36						c.(727-729)cGc>cAc		olfactory receptor, family 10, subfamily S, member 1							46.0	47.0	47.0					11																	123847671		2202	4299	6501	SO:0001583	missense	219873	5	121410	38				g.chr11:123847671C>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.728G>A	chr11.hg19:g.123847671C>T	ENSP00000431914:p.Arg243His	0						p.R243H	NM_001004474.1	NP_001004474.1	0	0	0	2.065711	Q8NGN2	O10S1_HUMAN		1	817	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	0	1	hg19	c.728G>A	CCDS31701.1	0	.	.	.	.	.	.	.	.	.	.	C	0.664	-0.804634	0.02819	.	.	ENSG00000196248	ENST00000531945	T	0.39229	1.09	4.85	0.979	0.19745	4.85	0.979	0.19745	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000680	T	0.19406	0.0466	N	0.17838	0.53	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.09729	-1.0661	10	0.20519	T	0.43	-8.8926	1.6508	0.02771	0.1318:0.368:0.1283:0.3719	.	243	Q8NGN2	O10S1_HUMAN	H	243	ENSP00000431914:R243H	ENSP00000431914:R243H	R	-	2	0	0	OR10S1	123352881	123352881	0.000000	0.05858	0.043000	0.18650	0.001000	0.01503	-2.583000	0.00904	0.028000	0.15324	-0.782000	0.03352	CGC	0.367660		TCGA-3A-A9IC-01A-11D-A38G-08	0.602	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	0	0	1	2	2	2	2	0	0	0	0	93	93	93	89	1	1.800000	-2.698636	1	0.370000	NM_001004474		0	5	5	0	249	243	0		1			0	0	93	0	0	0.934158	0	0	0	0	0	0	5	249
BTBD11	121551	broad.mit.edu	37	12	108045502	108045502	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:108045502G>A	ENST00000280758.5	+	16	3571	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	BTBD11_ENST00000494235.2_Missense_Mutation_p.E94K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E552K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E896K|Y_RNA_ENST00000410228.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1015						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCGACACTGTGAGATTATCTG	0.463																																						ENST00000280758.5	1.000000	7.000000e-02	1	1.200000e-01	0.200000	0.373891	0.200000	0.160000																										0				53						c.(3043-3045)Gag>Aag		BTB (POZ) domain containing 11							108.0	101.0	103.0					12																	108045502		2203	4300	6503	SO:0001583	missense	121551	0	0					g.chr12:108045502G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3043G>A	chr12.hg19:g.108045502G>A	ENSP00000280758:p.Glu1015Lys	1					BTBD11_ENST00000420571.2_Missense_Mutation_p.E896K|Y_RNA_ENST00000410228.1_RNA|BTBD11_ENST00000494235.2_Missense_Mutation_p.E94K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E552K	p.E1015K	NM_001018072.1	NP_001018082.1	0	2	2	1.928827	A6QL63	BTBDB_HUMAN		16	3571	+			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	0	1	hg19	c.3043G>A	CCDS31893.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.370428	0.95900	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.14	5.14	0.70334	5.14	5.14	0.70334	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86619	0.5976	M	0.87758	2.905	0.80722	D	1	D;D	0.69078	0.979;0.997	D;D	0.79108	0.982;0.992	D	0.88887	0.3343	10	0.87932	D	0	.	18.948	0.92628	0.0:0.0:1.0:0.0	.	552;1015	E9PHS4;A6QL63	.;BTBDB_HUMAN	K	1015;896;552;94	ENSP00000280758:E1015K;ENSP00000413889:E896K;ENSP00000349690:E552K;ENSP00000448322:E94K	ENSP00000280758:E1015K	E	+	1	0	0	BTBD11	106569632	106569632	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.258000	0.95555	2.535000	0.85469	0.655000	0.94253	GAG	0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.463	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	0	0	1	2	2	2	2	0	0	0	0	71	71	71	71	1	1.800000	-3.276163	1	0.370000	NM_152322		0	5	5	0	158	158	0		1	0		0	0	71	0	0	0.938513	1.515042e-03	0	0	0	2	0	5	158
CIT	11113	broad.mit.edu	37	12	120198768	120198768	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:120198768C>T	ENST00000261833.7	-	19	2322	c.2270G>A	c.(2269-2271)gGc>gAc	p.G757D	CIT_ENST00000392521.2_Missense_Mutation_p.G799D|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	757					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGAATTTTGCCCTTCTCATG	0.468																																						ENST00000261833.7	1.000000	2.000000e-02	1	5.000000e-02	0.080000	0.284976	0.080000	0.070000																										0				86						c.(2269-2271)gGc>gAc		citron rho-interacting serine/threonine kinase							227.0	207.0	214.0					12																	120198768		2203	4300	6503	SO:0001583	missense	11113	0	0					g.chr12:120198768C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2270G>A	chr12.hg19:g.120198768C>T	ENSP00000261833:p.Gly757Asp	1					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.G799D	p.G757D	NM_007174.2	NP_009105.1	0	2	2	1.928827	O14578	CTRO_HUMAN		19	2322	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	0	1	hg19	c.2270G>A	CCDS9192.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.41|16.41	3.115986|3.115986	0.56505|0.56505	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.63580	.|-0.05;-0.0	6.17|6.17	6.17|6.17	0.99709|0.99709	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.238217	.|0.43110	.|D	.|0.000601	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.14661|0.14661	0.345|0.345	0.38369|0.38369	D|D	0.944814|0.944814	.|B;B;B	.|0.26845	.|0.03;0.03;0.161	.|B;B;B	.|0.23852	.|0.022;0.022;0.049	T|T	0.42816|0.42816	-0.9429|-0.9429	5|10	.|0.14252	.|T	.|0.57	.|.	13.9957|13.9957	0.64397|0.64397	0.0:0.9315:0.0:0.0685|0.0:0.9315:0.0:0.0685	.|.	.|799;757;290	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|D	385|799;757	.|ENSP00000376306:G799D;ENSP00000261833:G757D	.|ENSP00000261833:G757D	A|G	-|-	1|2	0|0	0|0	CIT|CIT	118683151|118683151	118683151|118683151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.928000|3.928000	0.56506|0.56506	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|GGC	0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.468	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	0	0	1	2	10	2	2	1	1	1	1	230	230	230	221	1	1.800000	-1.778499	0	0.370000	NM_007174		0	7	7	0	529	514	0		0	0		1	0	230	0	0	0.290901	2.482913e-04	0	0	0	2	0	7	529
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	7.500000e-01	1	8.700000e-01	0.990000	0.956071	0.990000	1.000000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	0	0		Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	chr12.hg19:g.25398285C>G	ENSP00000256078:p.Gly12Arg	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	p.G12R	NM_033360.2	NP_203524.1	0	2	2	1.928827	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	97	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.34G>C	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	0	KRAS	25289552	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	101	101	101	100	1	1.800000	-20.000000	1	0.370000	NM_033360		2177	48	48	5834	216	211	1	1	1	1	1	0	0	101	208	1	1.000000	6.716996e-01	1	6	40	6	255	48	216
KRT78	196374	broad.mit.edu	37	12	53233575	53233575	+	Missense_Mutation	SNP	C	C	T	rs373055664		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:53233575C>T	ENST00000304620.4	-	7	1304	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	KRT78_ENST00000359499.4_Missense_Mutation_p.R304H	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	414	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGCAGCCTGCGGTAAGTGGC	0.607																																						ENST00000304620.4	1.000000	6.000000e-02	1	1.100000e-01	0.180000	0.356546	0.180000	0.150000																										0				18						c.(1240-1242)cGc>cAc		keratin 78		C	HIS/ARG	0,4406		0,0,2203	70.0	61.0	64.0		1241	3.0	1.0	12		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT78	NM_173352.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	414/521	53233575	1,13005	2203	4300	6503	SO:0001583	missense	196374	6	121412	39				g.chr12:53233575C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1241G>A	chr12.hg19:g.53233575C>T	ENSP00000306261:p.Arg414His	1					KRT78_ENST00000359499.4_Missense_Mutation_p.R304H	p.R414H	NM_173352.2	NP_775487.2	0	2	2	1.928827	Q8N1N4	K2C78_HUMAN		7	1304	-			A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	0	1	hg19	c.1241G>A	CCDS8840.1	0	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803941	0.50315	0.0	1.16E-4	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.94687	-3.49;-3.49	3.89	2.98	0.34508	3.89	2.98	0.34508	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.95043	0.8395	M	0.92833	3.35	0.27025	N	0.964374	B	0.31459	0.324	B	0.28465	0.09	D	0.91031	0.4864	9	0.72032	D	0.01	.	12.4504	0.55675	0.0:0.8293:0.1707:0.0	.	414	Q8N1N4	K2C78_HUMAN	H	304;414;185	ENSP00000352479:R304H;ENSP00000306261:R414H	ENSP00000306261:R414H	R	-	2	0	0	KRT78	51519842	51519842	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.883000	0.39658	0.966000	0.38159	-0.502000	0.04539	CGC	0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.607	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	0	0	1	2	2	2	2	0	0	0	0	103	103	103	98	1	1.800000	-3.022913	1	0.370000	NM_173352		0	6	5	0	210	206	0		1			0	0	103	0	0	0.963010	0	0	0	0	0	0	6	210
CRADD	8738	broad.mit.edu	37	12	94244044	94244044	+	Silent	SNP	G	G	A	rs116316289	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:94244044G>A	ENST00000542893.2	+	3	915	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000332896.3_Silent_p.E199E|CRADD_ENST00000548483.1_Intron			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	199					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						ACATGTTGGAGTGATGGTGCC	0.597													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		17015	0.0		0.0	False		,,,				2504	0.0					ENST00000542893.2	1.000000	9.000000e-02	1	1.500000e-01	0.240000	0.398040	0.240000	0.200000																										0				8						c.(595-597)gaG>gaA		CASP2 and RIPK1 domain containing adaptor with death domain		G		29,4333		0,29,2152	32.0	33.0	33.0		597	2.3	1.0	12	dbSNP_132	33	0,8552		0,0,4276	no	coding-synonymous	CRADD	NM_003805.3		0,29,6428	AA,AG,GG		0.0,0.6648,0.2246		199/200	94244044	29,12885	2181	4276	6457	SO:0001819	synonymous_variant	8738	73	121056	48				g.chr12:94244044G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.597G>A	chr12.hg19:g.94244044G>A		1					CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000332896.3_Silent_p.E199E|CRADD_ENST00000541813.1_Intron	p.E199E			0	2	2	1.928827	P78560	CRADD_HUMAN		3	915	+			B7Z2Q5	Silent	SNP	ENST00000542893.2	0	1	hg19	c.597G>A	CCDS9048.1	0																																																																																								0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.597	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	0	0	1	2	2	2	2	0	0	0	0	74	74	74	72	1	1.800000	-8.716142	1	0.370000	NM_003805		0	6	6	0	158	155	0		1	0		0	0	74	0	0	0.963826	2.241783e-01	0	0	0	21	0	6	158
CIT	11113	broad.mit.edu	37	12	120271946	120271946	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:120271946G>A	ENST00000261833.7	-	6	655	c.603C>T	c.(601-603)taC>taT	p.Y201Y	CIT_ENST00000392521.2_Silent_p.Y201Y	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTCAGCTAGGTAAAACTGTA	0.438																																						ENST00000261833.7	1.000000	3.000000e-02	1	6.000000e-02	0.110000	0.310616	0.110000	0.100000																										0				86						c.(601-603)taC>taT		citron rho-interacting serine/threonine kinase							129.0	111.0	117.0					12																	120271946		2203	4300	6503	SO:0001819	synonymous_variant	11113	0	0					g.chr12:120271946G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.603C>T	chr12.hg19:g.120271946G>A		1					CIT_ENST00000392521.2_Silent_p.Y201Y	p.Y201Y	NM_007174.2	NP_009105.1	0	2	2	1.928827	O14578	CTRO_HUMAN		6	655	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	0	1	hg19	c.603C>T	CCDS9192.1	0																																																																																								0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.438	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	0	0	1	2	2	2	2	0	0	0	0	98	98	98	96	1	1.800000	-5.965810	1	0.370000	NM_007174		0	5	5	0	278	271	0		1	0		0	0	98	0	0	0.933893	0	0	0	0	1	0	5	278
LPAR6	10161	broad.mit.edu	37	13	48986341	48986341	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:48986341C>T	ENST00000378434.4	-	7	1843	c.219G>A	c.(217-219)agG>agA	p.R73R	LPAR6_ENST00000345941.2_Silent_p.R73R|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						AGTAAAAAATCCTGAAGGGTA	0.358																																						ENST00000378434.4			0	0																														19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	14						c.(217-219)agG>agA		lysophosphatidic acid receptor 6							57.0	51.0	53.0					13																	48986341		2203	4300	6503	SO:0001819	synonymous_variant	10161	0	0					g.chr13:48986341C>T	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.219G>A	chr13.hg19:g.48986341C>T							RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Silent_p.R73R	p.R73R	NM_005767.5	NP_005758.2					P43657	LPAR6_HUMAN		7	1843	-			A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Silent	SNP	ENST00000378434.4	1	1	hg19	c.219G>A	CCDS9410.1																																																																																											TCGA-3A-A9IC-01A-11D-A38G-08	0.358	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	1	0	1	2	2	2	2	0	0	0	0	59	59	59	59	1	1.800000	-20.000000	1	0.370000	NM_005767		0	40	39	0	140	138	0		1	1		0	0	59	0	0	1.000000	9.999257e-01	0	8	0	47	0	40	140
PCDH17	27253	broad.mit.edu	37	13	58208067	58208067	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:58208067C>G	ENST00000377918.3	+	1	1413	c.1387C>G	c.(1387-1389)Cta>Gta	p.L463V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	463	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GATCAAGATTCTAGACGAGAA	0.602																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3	0.340000	5.000000e-02	2.500000e-01	9.000000e-02	0.160000	0.176869	0.160000	0.140000																										0				120						c.(1387-1389)Cta>Gta		protocadherin 17							53.0	44.0	47.0					13																	58208067		2202	4300	6502	SO:0001583	missense	27253	0	0					g.chr13:58208067C>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1387C>G	chr13.hg19:g.58208067C>G	ENSP00000367151:p.Leu463Val	1						p.L463V	NM_001040429.2	NP_001035519.1	0	1	1	1.745433	O14917	PCD17_HUMAN		1	1413	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	0	1	hg19	c.1387C>G	CCDS31986.1	0	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824594	0.50739	.	.	ENSG00000118946	ENST00000377918	T	0.55588	0.51	5.58	4.74	0.60224	5.58	4.74	0.60224	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	L	0.45470	1.425	0.48452	D	0.999652	P;P	0.50819	0.925;0.939	P;P	0.57720	0.734;0.826	T	0.56637	-0.7946	9	.	.	.	.	10.6669	0.45736	0.0:0.854:0.0:0.146	.	463;463	O14917-2;O14917	.;PCD17_HUMAN	V	463	ENSP00000367151:L463V	.	L	+	1	2	2	PCDH17	57106068	57106068	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	2.537000	0.45702	1.378000	0.46305	0.561000	0.74099	CTA	0.226994		TCGA-3A-A9IC-01A-11D-A38G-08	0.602	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	0	0	1	2	2	2	2	0	0	0	0	85	85	85	85	1	1.800000	-7.016980	1	0.370000	NM_001040429		0	4	4	0	115	110	0		1	0		0	0	85	0	0	0.881269	5.629746e-02	0	0	0	9	0	4	115
DOCK9	23348	broad.mit.edu	37	13	99567729	99567729	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:99567729T>C	ENST00000376460.1	-	8	826	c.746A>G	c.(745-747)gAg>gGg	p.E249G	DOCK9_ENST00000448493.2_Missense_Mutation_p.E261G|DOCK9_ENST00000339416.2_Missense_Mutation_p.E250G|DOCK9_ENST00000442173.1_Missense_Mutation_p.E249G	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	250	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATCTTGAGCTCAAAAGCAAA	0.353																																						ENST00000376460.1	0.410000	7.000000e-02	3.100000e-01	1.300000e-01	0.200000	0.226798	0.200000	0.190000																										0				59						c.(745-747)gAg>gGg		dedicator of cytokinesis 9							72.0	65.0	68.0					13																	99567729		1936	4149	6085	SO:0001583	missense	23348	0	0					g.chr13:99567729T>C	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.746A>G	chr13.hg19:g.99567729T>C	ENSP00000365643:p.Glu249Gly	1					DOCK9_ENST00000448493.2_Missense_Mutation_p.E261G|DOCK9_ENST00000339416.2_Missense_Mutation_p.E250G|DOCK9_ENST00000442173.1_Missense_Mutation_p.E249G	p.E249G	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	0	1	1	1.745433	Q9BZ29	DOCK9_HUMAN		8	826	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	1	1	hg19	c.746A>G	CCDS45062.1	0	.	.	.	.	.	.	.	.	.	.	T	24.9	4.584483	0.86748	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.83	4.83	0.62350	4.83	4.83	0.62350	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.985;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.982;1.0	D	0.91171	0.4968	9	.	.	.	.	14.4179	0.67163	0.0:0.0:0.0:1.0	.	250;249;249;249;250	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	G	249;250;250;250;249;250;261;249	ENSP00000365643:E249G;ENSP00000341086:E250G;ENSP00000401958:E261G;ENSP00000406883:E249G	.	E	-	2	0	0	DOCK9	98365730	98365730	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.580000	0.82523	1.824000	0.53156	0.533000	0.62120	GAG	0.226994		TCGA-3A-A9IC-01A-11D-A38G-08	0.353	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	0	0	1	2	2	2	2	0	0	0	0	37	37	37	37	1	1.800000	-4.137888	1	0.370000	NM_015296		0	5	5	0	106	103	0		1	0		0	0	37	0	0	0.934448	1.780051e-02	0	1	0	3	0	5	106
ATP10A	57194	broad.mit.edu	37	15	25940081	25940081	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr15:25940081G>A	ENST00000356865.6	-	14	3084	c.2973C>T	c.(2971-2973)ttC>ttT	p.F991F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	991					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAAGGAAGAGGAATTTGTCCT	0.617																																						ENST00000356865.6	1.000000	6.200000e-01	9.900000e-01	7.300000e-01	0.850000	0.852811	0.850000	1.000000																										0				103						c.(2971-2973)ttC>ttT		ATPase, class V, type 10A							90.0	88.0	88.0					15																	25940081		2203	4300	6503	SO:0001819	synonymous_variant	57194	0	0					g.chr15:25940081G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2973C>T	chr15.hg19:g.25940081G>A		0						p.F991F	NM_024490.3	NP_077816.1	1	2	3	2.096574	O60312	AT10A_HUMAN		14	3084	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	1	1	hg19	c.2973C>T	CCDS32178.1	1																																																																																								0.372322		TCGA-3A-A9IC-01A-11D-A38G-08	0.617	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	1	2	12	2	2	0	0	0	1	83	83	83	80	1	1.800000	-20.000000	1	0.370000	NM_024490		0	38	38	0	204	197	1		1	0		0	0	83	0	0	0.999969	9.894427e-01	0	0	0	41	0	38	204
TPSD1	23430	broad.mit.edu	37	16	1306874	1306874	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:1306874G>A	ENST00000211076.3	+	3	479	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	TPSD1_ENST00000397534.2_Missense_Mutation_p.V104I|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCTGCTGCCGGTCAGCAGGAT	0.627																																						ENST00000211076.3	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999955	0.990000	1.000000																										0				20						c.(331-333)Gtc>Atc		tryptase delta 1							61.0	63.0	62.0					16																	1306874		2199	4300	6499	SO:0001583	missense	23430	0	0					g.chr16:1306874G>A	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.331G>A	chr16.hg19:g.1306874G>A	ENSP00000211076:p.Val111Ile	1					RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Missense_Mutation_p.V104I	p.V111I	NM_012217.2	NP_036349.1	1	3	4	2.499549	Q9BZJ3	TRYD_HUMAN		3	479	+		Hepatocellular(780;0.00369)	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	1	1	hg19	c.331G>A	CCDS10432.1	1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.259525	0.23051	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.84298	-1.83;-1.83	2.55	-2.96	0.05547	2.55	-2.96	0.05547	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.262880	0.05827	N	0.616806	T	0.79822	0.4512	L	0.55990	1.75	0.09310	N	1	B;B	0.20459	0.008;0.045	B;B	0.26614	0.071;0.071	T	0.62530	-0.6835	10	0.44086	T	0.13	.	4.467	0.11694	0.3246:0.1675:0.508:0.0	.	95;111	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	I	104;111	ENSP00000380668:V104I;ENSP00000211076:V111I	ENSP00000211076:V111I	V	+	1	0	0	TPSD1	1246875	1246875	0.000000	0.05858	0.008000	0.14137	0.135000	0.20990	-1.596000	0.02091	-0.864000	0.04078	0.185000	0.17295	GTC	0.478131		TCGA-3A-A9IC-01A-11D-A38G-08	0.627	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2	1	0	1	2	2	2	2	0	0	0	0	98	98	98	102	1	1.800000	-20.000000	1	0.370000			0	51	47	0	172	155	1		1	0		0	0	98	0	0	1.000000	8.852890e-01	0	0	0	15	0	51	172
SLC6A2	6530	broad.mit.edu	37	16	55730216	55730216	+	Silent	SNP	C	C	T	rs149035289		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:55730216C>T	ENST00000379906.2	+	8	1482	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC6A2_ENST00000219833.8_Silent_p.F409F|SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000414754.3_Silent_p.F409F|SLC6A2_ENST00000566163.1_Silent_p.F364F|SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000561820.1_Silent_p.F409F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	409					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTGTGTTTTTCGTCATGCTCC	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18354	0.0		0.0	False		,,,				2504	0.0					ENST00000379906.2	0.980000	7.300000e-01	9.300000e-01	7.900000e-01	0.850000	0.862620	0.850000	0.860000																										0				41						c.(1225-1227)ttC>ttT		solute carrier family 6 (neurotransmitter transporter), member 2	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	C	,,,	2,4394	4.2+/-10.8	0,2,2196	258.0	214.0	229.0		1227,1227,912,1227	4.4	1.0	16	dbSNP_134	229	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC6A2	NM_001043.3,NM_001172501.1,NM_001172502.1,NM_001172504.1	,,,	0,3,6495	TT,TC,CC		0.0116,0.0455,0.0231	,,,	409/618,409/618,304/513,409/629	55730216	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	6530	6	121412	42				g.chr16:55730216C>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1227C>T	chr16.hg19:g.55730216C>T		1					SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000414754.3_Silent_p.F409F|SLC6A2_ENST00000219833.8_Silent_p.F409F|SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000561820.1_Silent_p.F409F|SLC6A2_ENST00000566163.1_Silent_p.F364F	p.F409F	NM_001043.3	NP_001034.1	0	1	1	1.708986	P23975	SC6A2_HUMAN		8	1482	+			B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	1	1	hg19	c.1227C>T	CCDS10754.1	1																																																																																								0.226994		TCGA-3A-A9IC-01A-11D-A38G-08	0.542	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2	1	0	1	2	2	2	2	0	0	0	0	225	225	225	213	1	1.800000	-20.000000	1	0.370000			0	130	130	0	530	522	0		1			0	0	225	0	0	1.000000	0	0	0	0	0	0	130	530
SLC13A5	284111	broad.mit.edu	37	17	6599137	6599137	+	Silent	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:6599137G>T	ENST00000433363.2	-	7	1196	c.963C>A	c.(961-963)atC>atA	p.I321I	SLC13A5_ENST00000293800.6_Silent_p.I304I|SLC13A5_ENST00000573648.1_Silent_p.I321I|SLC13A5_ENST00000381074.4_Silent_p.I278I	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	321					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGAAGAAGCAGATCAGCACGT	0.587																																						ENST00000433363.2	0.140000	4.000000e-02	1.100000e-01	5.000000e-02	0.080000	0.089376	0.080000	0.080000																										0				26						c.(961-963)atC>atA		solute carrier family 13 (sodium-dependent citrate transporter), member 5							143.0	142.0	142.0					17																	6599137		2203	4300	6503	SO:0001819	synonymous_variant	284111	0	0					g.chr17:6599137G>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.963C>A	chr17.hg19:g.6599137G>T		1					SLC13A5_ENST00000381074.4_Silent_p.I278I|SLC13A5_ENST00000293800.6_Silent_p.I304I|SLC13A5_ENST00000573648.1_Silent_p.I321I	p.I321I	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	0	1	1	1.703492	Q86YT5	S13A5_HUMAN		7	1196	-			B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	0	1	hg19	c.963C>A	CCDS11079.1	0																																																																																								0.226994		TCGA-3A-A9IC-01A-11D-A38G-08	0.587	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	0	0	1	2	2	2	2	0	0	0	0	188	188	188	182	1	1.800000	-2.948824	1	0.370000	NM_177550		0	11	11	0	575	565	0		1	0		0	0	188	0	0	0.998190	1.329928e-03	0	0	0	3	0	11	575
KCNH6	81033	broad.mit.edu	37	17	61611489	61611489	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:61611489C>T	ENST00000583023.1	+	5	929	c.918C>T	c.(916-918)atC>atT	p.I306I	KCNH6_ENST00000581784.1_Silent_p.I306I|KCNH6_ENST00000314672.5_Silent_p.I306I|KCNH6_ENST00000456941.2_Silent_p.I306I|KCNH6_ENST00000580652.1_Silent_p.I306I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	306					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGATCTCATCGTGGACATCA	0.597																																						ENST00000583023.1	0.980000	7.300000e-01	9.400000e-01	8.000000e-01	0.870000	0.872910	0.870000	0.880000																										0				54						c.(916-918)atC>atT		potassium voltage-gated channel, subfamily H (eag-related), member 6	Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)						227.0	194.0	205.0					17																	61611489		2203	4300	6503	SO:0001819	synonymous_variant	81033	1	121412	40				g.chr17:61611489C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.918C>T	chr17.hg19:g.61611489C>T		1					KCNH6_ENST00000581784.1_Silent_p.I306I|KCNH6_ENST00000580652.1_Silent_p.I306I|KCNH6_ENST00000314672.5_Silent_p.I306I|KCNH6_ENST00000456941.2_Silent_p.I306I	p.I306I	NM_030779.2	NP_110406.1	0	1	1	1.712292	Q9H252	KCNH6_HUMAN		5	929	+			Q9BRD7	Silent	SNP	ENST00000583023.1	1	1	hg19	c.918C>T	CCDS11638.1	1																																																																																								0.226994		TCGA-3A-A9IC-01A-11D-A38G-08	0.597	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	0	0	1	2	2	2	2	0	0	0	0	302	302	302	295	1	1.800000	-20.000000	1	0.370000	NM_030779		0	115	113	0	459	450	1		1	0		0	0	302	0	0	1.000000	0	0	0	0	1	0	115	459
AQP4	361	broad.mit.edu	37	18	24436280	24436280	+	Silent	SNP	C	C	T	rs371116956		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:24436280C>T	ENST00000383168.4	-	5	995	c.867G>A	c.(865-867)acG>acA	p.T289T	AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Silent_p.T267T|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Silent_p.T267T|AQP4_ENST00000583022.1_5'UTR	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	289					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.T289T(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TCAGGTCATCCGTCTCTACCT	0.478																																						ENST00000383168.4	0.160000	5.000000e-02	1.300000e-01	7.000000e-02	0.100000	0.107659	0.100000	0.100000																										1	Substitution - coding silent(1)	p.T289T(1)	lung(1)	11						c.(865-867)acG>acA		aquaporin 4		C	,	1,4405	2.1+/-5.4	0,1,2202	360.0	295.0	317.0		867,801	-11.5	0.0	18		317	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AQP4	NM_001650.4,NM_004028.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	289/324,267/302	24436280	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	361	4	121412	42				g.chr18:24436280C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.867G>A	chr18.hg19:g.24436280C>T		0					AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Silent_p.T267T|AQP4_ENST00000581374.1_Silent_p.T267T|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	p.T289T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	0	0	0	2.047984	P55087	AQP4_HUMAN		5	995	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		P78564	Silent	SNP	ENST00000383168.4	0	1	hg19	c.867G>A	CCDS11889.1	0																																																																																								0.360536		TCGA-3A-A9IC-01A-11D-A38G-08	0.478	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	0	0	1	2	2	2	2	0	0	0	0	442	442	442	427	1	1.800000	-1.696575	0	0.370000	NM_001650, NM_004028		0	20	19	0	1015	994	0		1	0		0	0	442	0	0	0.999994	0	0	0	0	1	0	20	1015
PTPRM	5797	broad.mit.edu	37	18	7567856	7567856	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:7567856C>A	ENST00000332175.8	+	1	1077	c.40C>A	c.(40-42)Ctt>Att	p.L14I	PTPRM_ENST00000580170.1_Missense_Mutation_p.L14I|PTPRM_ENST00000400060.4_Missense_Mutation_p.L14I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	14					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTTGGCCGGACTTTTGCTAAC	0.756																																						ENST00000332175.8	0.970000	5.300000e-01	8.600000e-01	6.300000e-01	0.740000	0.751895	0.740000	0.730000																										0				90						c.(40-42)Ctt>Att		protein tyrosine phosphatase, receptor type, M							56.0	55.0	55.0					18																	7567856		2203	4299	6502	SO:0001583	missense	5797	0	0					g.chr18:7567856C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.40C>A	chr18.hg19:g.7567856C>A	ENSP00000331418:p.Leu14Ile	0					PTPRM_ENST00000580170.1_Missense_Mutation_p.L14I|PTPRM_ENST00000400060.4_Missense_Mutation_p.L14I	p.L14I	NM_002845.3	NP_002836.3	0	0	0	2.047984	P28827	PTPRM_HUMAN		1	1077	+		Colorectal(10;0.234)	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	1	1	hg19	c.40C>A	CCDS11840.1	0	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342799	0.61073	.	.	ENSG00000173482	ENST00000332175;ENST00000400060	T;T	0.38401	1.14;1.14	3.47	3.47	0.39725	3.47	3.47	0.39725	.	0.288191	0.23920	N	0.043243	T	0.28267	0.0698	L	0.39898	1.24	0.80722	D	1	B;B	0.21688	0.059;0.059	B;B	0.13407	0.009;0.009	T	0.06972	-1.0797	10	0.15952	T	0.53	.	14.55	0.68059	0.0:1.0:0.0:0.0	.	14;14	A7MBN1;P28827	.;PTPRM_HUMAN	I	14	ENSP00000331418:L14I;ENSP00000382933:L14I	ENSP00000331418:L14I	L	+	1	0	0	PTPRM	7557856	7557856	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.495000	0.35627	1.498000	0.48600	0.305000	0.20034	CTT	0.360536		TCGA-3A-A9IC-01A-11D-A38G-08	0.756	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1	1	0	1	2	2	2	2	0	0	0	0	120	120	120	120	1	1.800000	-20.000000	1	0.370000			0	37	36	0	228	222	0		1	0		0	0	120	0	0	1.000000	1.512876e-01	0	0	0	5	0	37	228
SERPINB2	5055	broad.mit.edu	37	18	61562529	61562529	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:61562529C>A	ENST00000299502.4	+	3	280	c.200C>A	c.(199-201)gCa>gAa	p.A67E	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Missense_Mutation_p.A67E	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	67					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	GGAGCCAATGCAGTTACCCCC	0.443																																						ENST00000299502.4	1.000000	7.600000e-01	9.700000e-01	8.200000e-01	0.890000	0.900645	0.890000	1.000000																										0				32						c.(199-201)gCa>gAa		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Tenecteplase(DB00031)|Urokinase(DB00013)						161.0	161.0	161.0					18																	61562529		2203	4300	6503	SO:0001583	missense	5055	0	0					g.chr18:61562529C>A	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.200C>A	chr18.hg19:g.61562529C>A	ENSP00000299502:p.Ala67Glu	0					SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Missense_Mutation_p.A67E	p.A67E	NM_002575.2	NP_002566.1	0	0	0	2.047984	P05120	PAI2_HUMAN		3	280	+		Esophageal squamous(42;0.131)	Q96E96	Missense_Mutation	SNP	ENST00000299502.4	1	0	hg19	c.200C>A	CCDS11989.1	1	.	.	.	.	.	.	.	.	.	.	C	0.513	-0.865696	0.02590	.	.	ENSG00000197632	ENST00000404622;ENST00000299502;ENST00000457692;ENST00000413956;ENST00000443281	D;D;D;D;T	0.83673	-1.53;-1.75;-1.75;-1.5;-1.06	5.93	0.717	0.18196	5.93	0.717	0.18196	Serpin domain (3);	7739.210000	0.00166	U	0.000005	T	0.54159	0.1841	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62034	-0.6939	10	0.02654	T	1	.	5.6649	0.17690	0.6444:0.1378:0.2178:0.0	.	67	P05120	PAI2_HUMAN	E	67	ENSP00000385397:A67E;ENSP00000299502:A67E;ENSP00000401645:A67E;ENSP00000402386:A67E;ENSP00000397096:A67E	ENSP00000299502:A67E	A	+	2	0	0	SERPINB2	59713509	59713509	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.208000	0.17415	-0.093000	0.12396	-0.262000	0.10625	GCA	0.360536		TCGA-3A-A9IC-01A-11D-A38G-08	0.443	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	0	0	0	2	19	2	2	2	2	2	2	197	197	197	195	1	1.800000	-20.000000	1	0.370000	NM_002575		0	128	125	0	628	611	1		1	1		2	0	197	0	0	1.000000	9.054183e-01	0	15	0	7	0	128	628
ZNF507	22847	broad.mit.edu	37	19	32845207	32845207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:32845207C>T	ENST00000311921.4	+	2	1663	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491*|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAGTCTCTTCGATTACACTC	0.463																																						ENST00000311921.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				31						c.(1471-1473)Cga>Tga		zinc finger protein 507							57.0	60.0	59.0					19																	32845207		2203	4300	6503	SO:0001587	stop_gained	22847	0	0					g.chr19:32845207C>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1471C>T	chr19.hg19:g.32845207C>T	ENSP00000312277:p.Arg491*	1					ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491*|ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491*	p.R491*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	3	6	9	3.122457	Q8TCN5	ZN507_HUMAN		2	1663	+	Esophageal squamous(110;0.162)		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Nonsense_Mutation	SNP	ENST00000311921.4	0	1	hg19	c.1471C>T	CCDS32985.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644048	0.87859	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	.	.	.	5.79	1.09	0.20402	5.79	1.09	0.20402	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	19.1701	0.93574	0.2995:0.7005:0.0:0.0	.	.	.	.	X	491	.	ENSP00000312277:R491X	R	+	1	2	2	ZNF507	37537047	37537047	0.002000	0.14202	0.120000	0.21714	0.130000	0.20726	0.063000	0.14410	-0.159000	0.11021	-0.262000	0.10625	CGA	0.581409		TCGA-3A-A9IC-01A-11D-A38G-08	0.463	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	1	0	0	2	2	2	2	0	0	0	0	112	112	112	112	1	1.800000	-20.000000	1	0.370000	NM_014910		0	113	111	0	352	346	0		1	0		0	0	112	0	0	1.000000	2.496965e-01	0	0	0	4	0	113	352
ZNF302	55900	broad.mit.edu	37	19	35175765	35175765	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:35175765C>T	ENST00000446502.2	+	6	1163	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	ZNF302_ENST00000505242.1_Missense_Mutation_p.H275Y|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000457781.2_Missense_Mutation_p.H275Y			Q9NR11	ZN302_HUMAN	zinc finger protein 302	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTTACTAACCATCAGAGCAC	0.428																																						ENST00000446502.2	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				6						c.(955-957)Cat>Tat		zinc finger protein 302							93.0	91.0	92.0					19																	35175765		2203	4300	6503	SO:0001583	missense	55900	0	0					g.chr19:35175765C>T	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.955C>T	chr19.hg19:g.35175765C>T	ENSP00000396379:p.His319Tyr	1					ZNF302_ENST00000505242.1_Missense_Mutation_p.H275Y|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000457781.2_Missense_Mutation_p.H275Y	p.H319Y			3	6	9	3.122457	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	6	1163	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	1	1	hg19	c.955C>T		1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866730	0.32977	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	0.967	0.967	0.19674	0.967	0.967	0.19674	.	.	.	.	.	D	0.94918	0.8357	H	0.97214	3.96	0.09310	N	1	D;D	0.89917	0.99;1.0	D;D	0.91635	0.973;0.999	D	0.85181	0.1004	9	0.87932	D	0	.	7.7985	0.29160	0.0:1.0:0.0:0.0	.	319;275	E7EVR1;Q9NR11-2	.;.	Y	275;275;275;319	ENSP00000391067:H275Y;ENSP00000421028:H275Y;ENSP00000405219:H275Y;ENSP00000396379:H319Y	ENSP00000405219:H275Y	H	+	1	0	0	ZNF302	39867605	39867605	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	6.528000	0.73807	0.822000	0.34565	0.467000	0.42956	CAT	0.581409		TCGA-3A-A9IC-01A-11D-A38G-08	0.428	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1	0	0	1	2	18	3	2	1	1	1	1	101	101	101	100	1	1.800000	-6.984519	1	0.370000			0	142	142	0	389	383	1		1	1		1	0	101	0	0	1.000000	9.995045e-01	0	12	0	29	0	142	389
ZNF558	148156	broad.mit.edu	37	19	8922295	8922295	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:8922295G>A	ENST00000601372.1	-	10	1582	c.871C>T	c.(871-873)Cct>Tct	p.P291S	ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S|ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S			Q96NG5	ZN558_HUMAN	zinc finger protein 558	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CATTCATAAGGTTTCTCCCCT	0.448																																						ENST00000601372.1	0.160000	4.000000e-02	1.300000e-01	6.000000e-02	0.090000	0.100162	0.090000	0.090000																										0				15						c.(871-873)Cct>Tct		zinc finger protein 558							125.0	119.0	121.0					19																	8922295		2203	4300	6503	SO:0001583	missense	148156	0	0					g.chr19:8922295G>A	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.871C>T	chr19.hg19:g.8922295G>A	ENSP00000471277:p.Pro291Ser	1					ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S|ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S	p.P291S			0	1	1	1.750342	Q96NG5	ZN558_HUMAN		10	1582	-			A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	0	1	hg19	c.871C>T	CCDS12208.1	0	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458995	0.84317	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.16743	2.32;2.32	5.07	5.07	0.68467	5.07	5.07	0.68467	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000595	T	0.38532	0.1044	L	0.60904	1.88	0.47214	D	0.999359	D	0.89917	1.0	D	0.72338	0.977	T	0.09487	-1.0672	10	0.87932	D	0	-15.4151	15.9729	0.80034	0.0:0.0:1.0:0.0	.	291	Q96NG5	ZN558_HUMAN	S	291;220	ENSP00000301475:P291S;ENSP00000410703:P220S	ENSP00000301475:P291S	P	-	1	0	0	ZNF558	8783295	8783295	1.000000	0.71417	0.954000	0.39281	0.979000	0.70002	8.818000	0.91991	2.636000	0.89361	0.591000	0.81541	CCT	0.239084		TCGA-3A-A9IC-01A-11D-A38G-08	0.448	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	0	0	1	2	2	2	2	0	0	0	0	197	197	197	193	1	1.800000	-3.279983	1	0.370000	NM_144693		0	11	11	0	520	511	0		1	0		0	0	197	0	0	0.998179	7.637845e-03	0	0	0	6	0	11	520
MUC16	94025	broad.mit.edu	37	19	9063069	9063069	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:9063069G>A	ENST00000397910.4	-	3	24580	c.24377C>T	c.(24376-24378)aCc>aTc	p.T8126I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8128	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGCTGCTGGTCTTTCTCAG	0.527																																						ENST00000397910.4	0.990000	6.600000e-01	9.200000e-01	7.400000e-01	0.820000	0.835187	0.820000	0.830000																										0				590						c.(24376-24378)aCc>aTc		mucin 16, cell surface associated							129.0	125.0	126.0					19																	9063069		2006	4173	6179	SO:0001583	missense	94025	0	0					g.chr19:9063069G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24377C>T	chr19.hg19:g.9063069G>A	ENSP00000381008:p.Thr8126Ile	1						p.T8126I	NM_024690.2	NP_078966.2	0	1	1	1.750342	Q8WXI7	MUC16_HUMAN		3	24580	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	1	1	hg19	c.24377C>T	CCDS54212.1	0	.	.	.	.	.	.	.	.	.	.	g	5.227	0.227444	0.09916	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	3.09	2.02	0.26589	3.09	2.02	0.26589	.	.	.	.	.	T	0.02767	0.0083	L	0.29908	0.895	.	.	.	P	0.36837	0.571	B	0.37047	0.24	T	0.28073	-1.0055	8	0.87932	D	0	.	7.2133	0.25945	0.0:0.0:0.7105:0.2894	.	8126	B5ME49	.	I	8126	ENSP00000381008:T8126I	ENSP00000381008:T8126I	T	-	2	0	0	MUC16	8924069	8924069	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.336000	0.07863	0.827000	0.34685	0.508000	0.49915	ACC	0.239084		TCGA-3A-A9IC-01A-11D-A38G-08	0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	2	2	2	2	0	0	0	0	80	80	80	75	1	1.800000	-20.000000	1	0.370000	NM_024690		0	75	73	0	326	319	1		1	0		0	0	80	0	0	1.000000	0	0	1	0	0	0	75	326
OR7D4	125958	broad.mit.edu	37	19	9325236	9325236	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:9325236G>A	ENST00000308682.2	-	1	306	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCCCATGTAGGAGATGTCTTT	0.488																																						ENST00000308682.2	1.000000	7.400000e-01	1	8.200000e-01	0.920000	0.914607	0.920000	1.000000																										0				26						c.(277-279)tCc>tTc		olfactory receptor, family 7, subfamily D, member 4							82.0	73.0	76.0					19																	9325236		2203	4300	6503	SO:0001583	missense	125958	0	0					g.chr19:9325236G>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.278C>T	chr19.hg19:g.9325236G>A	ENSP00000310488:p.Ser93Phe	1						p.S93F	NM_001005191.2	NP_001005191.1	0	1	1	1.750342	Q8NG98	OR7D4_HUMAN		1	306	-			A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	1	1	hg19	c.278C>T	CCDS32901.1	1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350572	0.24512	.	.	ENSG00000174667	ENST00000308682	T	0.00745	5.75	3.86	1.64	0.23874	3.86	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.344022	0.25397	N	0.030975	T	0.04003	0.0112	M	0.94142	3.5	0.09310	N	1	P	0.52316	0.952	P	0.55667	0.781	T	0.07158	-1.0787	10	0.87932	D	0	.	8.2914	0.31960	0.0976:0.1631:0.7393:0.0	.	93	Q8NG98	OR7D4_HUMAN	F	93	ENSP00000310488:S93F	ENSP00000310488:S93F	S	-	2	0	0	OR7D4	9186236	9186236	0.075000	0.21258	0.020000	0.16555	0.086000	0.17979	2.488000	0.45276	0.951000	0.37770	0.436000	0.28706	TCC	0.239084		TCGA-3A-A9IC-01A-11D-A38G-08	0.488	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	1	0	1	2	2	2	2	0	0	0	0	119	119	119	117	1	1.800000	-20.000000	1	0.370000			0	68	67	0	255	249	1		1			0	0	119	0	0	1.000000	0	0	0	0	0	0	68	255
ZNF382	84911	broad.mit.edu	37	19	37117303	37117303	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:37117303G>A	ENST00000292928.2	+	5	617	c.504G>A	c.(502-504)gaG>gaA	p.E168E	CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Silent_p.E167E|ZNF382_ENST00000435416.1_Silent_p.E167E|ZNF382_ENST00000423582.1_Silent_p.E119E	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	168	Represses transcription. {ECO:0000250}.		E -> G (in dbSNP:rs3108171). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGGATGGGAGAAATCACTCC	0.358																																						ENST00000292928.2	1.000000	1.000000e-01	1	1.300000e-01	0.170000	0.359878	0.170000	0.150000																										0				34						c.(502-504)gaG>gaA		zinc finger protein 382							104.0	112.0	109.0					19																	37117303		2201	4300	6501	SO:0001819	synonymous_variant	84911	0	0					g.chr19:37117303G>A	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.504G>A	chr19.hg19:g.37117303G>A		1					ZNF382_ENST00000439428.1_Silent_p.E167E|ZNF382_ENST00000435416.1_Silent_p.E167E|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000423582.1_Silent_p.E119E	p.E168E	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	3	6	9	3.122457	Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)	5	617	+	Esophageal squamous(110;0.198)		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Silent	SNP	ENST00000292928.2	1	1	hg19	c.504G>A	CCDS33004.1	0																																																																																								0.581409		TCGA-3A-A9IC-01A-11D-A38G-08	0.358	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	0	0	1	2	2	2	2	0	0	0	0	278	278	278	274	1	1.800000	-2.480837	0	0.370000	NM_032825		0	26	26	0	1275	1253	0		1	0		0	0	278	0	0	1.000000	4.435761e-04	0	0	0	2	0	26	1275
CDC14A	8556	broad.mit.edu	37	1	100964516	100964516	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:100964516C>T	ENST00000336454.3	+	15	1808	c.1453C>T	c.(1453-1455)Cta>Tta	p.L485L	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Silent_p.L485L|CDC14A_ENST00000544534.1_Silent_p.L485L|CDC14A_ENST00000542213.1_Silent_p.L427L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	485					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGCCAGTTCTCTAGGGAACTT	0.458																																						ENST00000336454.3	1.000000	7.900000e-01	1	9.200000e-01	0.990000	0.971940	0.990000	1.000000																										0				31						c.(1453-1455)Cta>Tta		cell division cycle 14A							52.0	53.0	53.0					1																	100964516		2203	4300	6503	SO:0001819	synonymous_variant	8556	0	0					g.chr1:100964516C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1453C>T	chr1.hg19:g.100964516C>T		0					CDC14A_ENST00000361544.6_Silent_p.L485L|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Silent_p.L485L|CDC14A_ENST00000542213.1_Silent_p.L427L	p.L485L	NM_003672.3	NP_003663.2	0	1	1	2.074476	Q9UNH5	CC14A_HUMAN		15	1808	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	1	1	hg19	c.1453C>T	CCDS769.1	1																																																																																								0.368832		TCGA-3A-A9IC-01A-11D-A38G-08	0.458	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	1	0	1	2	2	2	2	0	0	0	0	99	99	99	98	1	1.800000	-3.432197	1	0.370000	NM_033312		0	43	42	0	175	170	1		1	0		0	0	99	0	0	1.000000	0	0	0	0	1	0	43	175
VAV3	10451	broad.mit.edu	37	1	108322082	108322082	+	Silent	SNP	T	T	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:108322082T>A	ENST00000370056.4	-	3	628	c.354A>T	c.(352-354)acA>acT	p.T118T	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.T53T|VAV3_ENST00000527011.1_Silent_p.T118T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	118	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATGCTATAGGTGTTCGAGAAA	0.318																																						ENST00000370056.4	1.000000	6.100000e-01	1	7.300000e-01	0.860000	0.861079	0.860000	1.000000																										0				58						c.(352-354)acA>acT		vav 3 guanine nucleotide exchange factor							115.0	109.0	111.0					1																	108322082		2203	4300	6503	SO:0001819	synonymous_variant	10451	0	0					g.chr1:108322082T>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.354A>T	chr1.hg19:g.108322082T>A		0					VAV3_ENST00000371846.4_Silent_p.T53T|VAV3_ENST00000527011.1_Silent_p.T118T|VAV3_ENST00000343258.4_5'UTR	p.T118T	NM_006113.4	NP_006104.4	0	1	1	2.074476	Q9UKW4	VAV3_HUMAN		3	628	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	1	1	hg19	c.354A>T	CCDS785.1	1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808483	0.16467	.	.	ENSG00000134215	ENST00000490388	.	.	.	5.66	-2.99	0.05497	5.66	-2.99	0.05497	.	.	.	.	.	T	0.21387	0.0515	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32402	-0.9908	4	.	.	.	.	1.9071	0.03279	0.1262:0.3105:0.1305:0.4328	.	.	.	.	L	113	.	.	H	-	2	0	0	VAV3	108123605	108123605	0.350000	0.24878	0.943000	0.38184	0.624000	0.37722	-0.789000	0.04609	-0.883000	0.03982	-0.917000	0.02746	CAC	0.368832		TCGA-3A-A9IC-01A-11D-A38G-08	0.318	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	1	0	1	2	2	2	2	0	0	0	0	55	55	55	54	1	1.800000	-20.000000	1	0.370000	NM_006113		0	31	31	0	162	158	1		1			0	0	55	0	0	1.000000	0	0	0	0	0	0	31	162
AKR7L	246181	broad.mit.edu	37	1	19595852	19595852	+	RNA	SNP	G	G	A	rs570127845		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:19595852G>A	ENST00000429712.1	-	0	737				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TGTACTTGCCGGTCAGCAGGC	0.627													.|||	1	0.000199681	0.0	0.0	5008	,	,		15981	0.001		0.0	False		,,,				2504	0.0					ENST00000429712.1	0.240000	3.000000e-02	1.600000e-01	6.000000e-02	0.100000	0.122618	0.100000	0.100000																										0				6								aldo-keto reductase family 7-like							88.0	89.0	89.0					1																	19595852		692	1591	2283			246181	31	121412	45				g.chr1:19595852G>A			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		chr1.hg19:g.19595852G>A		0					AKR7L_ENST00000420396.2_RNA				1	2	3	2.087888	Q8NHP1	ARK74_HUMAN		0	737	-			Q5U614	RNA	SNP	ENST00000429712.1	0	1	hg19			0																																																																																								0.372322		TCGA-3A-A9IC-01A-11D-A38G-08	0.627	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	0	0	1	2	2	2	2	0	0	0	0	120	120	120	117	1	1.800000	-2.530209	1	0.370000	NM_201252		0	5	5	0	277	270	0		1	0		0	0	120	0	0	0.933880	2.177388e-01	0	0	0	41	0	5	277
VTCN1	79679	broad.mit.edu	37	1	117699284	117699284	+	Silent	SNP	G	G	A	rs202083832		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:117699284G>A	ENST00000369458.3	-	3	435	c.357C>T	c.(355-357)aaC>aaT	p.N119N	VTCN1_ENST00000359008.4_Silent_p.N122N|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000539893.1_Silent_p.N24N|VTCN1_ENST00000328189.3_Intron	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGAGTTGCACGTTTTTCAGCC	0.453																																						ENST00000369458.3	0.170000	2.000000e-02	1.300000e-01	5.000000e-02	0.080000	0.092639	0.080000	0.080000																										0				12						c.(355-357)aaC>aaT		V-set domain containing T cell activation inhibitor 1		G		0,4406		0,0,2203	93.0	91.0	91.0		357	-3.5	0.9	1		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VTCN1	NM_024626.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		119/283	117699284	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79679	1	121412	37				g.chr1:117699284G>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.357C>T	chr1.hg19:g.117699284G>A		0					VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Silent_p.N122N|VTCN1_ENST00000539893.1_Silent_p.N24N|VTCN1_ENST00000463461.1_5'UTR	p.N119N	NM_024626.3	NP_078902.2	0	1	1	2.074476				3	435	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Silent	SNP	ENST00000369458.3	0	1	hg19	c.357C>T	CCDS894.1	0																																																																																								0.368832		TCGA-3A-A9IC-01A-11D-A38G-08	0.453	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	0	0	1	2	2	2	2	0	0	0	0	82	82	82	80	1	1.800000	-3.159431	1	0.370000	NM_024626		0	6	6	0	398	392	0		1	0		0	0	82	0	0	0.963597	1.356655e-02	0	0	0	10	0	6	398
CYP2J2	1573	broad.mit.edu	37	1	60359407	60359407	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:60359407G>T	ENST00000371204.3	-	9	1468	c.1425C>A	c.(1423-1425)aaC>aaA	p.N475K	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	475					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GCTTCTCATTGTTTGGGGGCC	0.463																																						ENST00000371204.3	0.130000	5.000000e-02	1.100000e-01	6.000000e-02	0.080000	0.094616	0.080000	0.100000																										0				26						c.(1423-1425)aaC>aaA		cytochrome P450, family 2, subfamily J, polypeptide 2	Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)						211.0	229.0	223.0					1																	60359407		2203	4300	6503	SO:0001583	missense	1573	0	0					g.chr1:60359407G>T	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1425C>A	chr1.hg19:g.60359407G>T	ENSP00000360247:p.Asn475Lys	0					CYP2J2_ENST00000492633.1_5'UTR	p.N475K	NM_000775.2	NP_000766.2	0	1	1	2.074476	P51589	CP2J2_HUMAN		9	1468	-	all_cancers(7;0.000396)		B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	0	1	hg19	c.1425C>A	CCDS613.1	0	.	.	.	.	.	.	.	.	.	.	G	4.196	0.034984	0.08101	.	.	ENSG00000134716	ENST00000371204	T	0.66460	-0.21	5.77	0.0605	0.14336	5.77	0.0605	0.14336	.	1.795700	0.02607	N	0.101724	T	0.37320	0.0999	N	0.05306	-0.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	10	0.05959	T	0.93	.	1.0313	0.01539	0.1662:0.2556:0.2891:0.2891	.	475	P51589	CP2J2_HUMAN	K	475	ENSP00000360247:N475K	ENSP00000360247:N475K	N	-	3	2	2	CYP2J2	60131995	60131995	0.000000	0.05858	0.042000	0.18584	0.879000	0.50718	-0.027000	0.12371	0.309000	0.22966	0.655000	0.94253	AAC	0.368832		TCGA-3A-A9IC-01A-11D-A38G-08	0.463	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	0	0	1	2	2	2	2	1	1	1	0	357	357	357	346	1	1.800000	-3.319216	1	0.370000	NM_000775		0	25	23	0	1454	1433	0		1	0		1	0	357	0	0	1.000000	1.814823e-01	0	0	0	44	0	25	1454
IFI44L	10964	broad.mit.edu	37	1	79093845	79093845	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:79093845C>T	ENST00000370751.5	+	2	424	c.245C>T	c.(244-246)tCc>tTc	p.S82F	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	82					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCAAATGATTCCCTATGGTTT	0.313																																						ENST00000370751.5	0.350000	1.000000e-01	2.800000e-01	1.500000e-01	0.200000	0.221178	0.200000	0.200000																										0				22						c.(244-246)tCc>tTc		interferon-induced protein 44-like							54.0	58.0	57.0					1																	79093845		2202	4298	6500	SO:0001583	missense	10964	1	121378	26				g.chr1:79093845C>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.245C>T	chr1.hg19:g.79093845C>T	ENSP00000359787:p.Ser82Phe	0					IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron	p.S82F	NM_006820.2	NP_006811.2	0	1	1	2.074476	Q53G44	IF44L_HUMAN		2	424	+			Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	1	1	hg19	c.245C>T	CCDS687.2	0	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000516	0.35320	.	.	ENSG00000137959	ENST00000452835;ENST00000370751;ENST00000450498	T;T;T	0.35973	1.28;3.08;2.49	2.89	1.97	0.26223	2.89	1.97	0.26223	.	0.239768	0.34652	N	0.003789	T	0.10208	0.0250	L	0.34521	1.04	0.21184	N	0.999769	B	0.28552	0.215	B	0.28916	0.096	T	0.13098	-1.0522	10	0.54805	T	0.06	-4.5215	5.0216	0.14363	0.0:0.7217:0.0:0.2783	.	82	Q53G44	IF44L_HUMAN	F	82;82;59	ENSP00000409914:S82F;ENSP00000359787:S82F;ENSP00000400784:S59F	ENSP00000359787:S82F	S	+	2	0	0	IFI44L	78866433	78866433	0.000000	0.05858	0.010000	0.14722	0.106000	0.19336	0.018000	0.13422	0.793000	0.33875	0.411000	0.27672	TCC	0.368832		TCGA-3A-A9IC-01A-11D-A38G-08	0.313	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	0	0	1	2	2	2	2	0	0	0	0	75	75	75	74	1	1.800000	-12.127670	1	0.370000	NM_006820		0	11	11	0	278	273	0		1			0	0	75	0	0	0.998258	0	0	0	0	0	0	11	278
ASPM	259266	broad.mit.edu	37	1	197070385	197070385	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:197070385T>C	ENST00000367409.4	-	18	8252	c.7996A>G	c.(7996-7998)Acc>Gcc	p.T2666A	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2666	IQ 29. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTGCTTGGGTACGCACTGCA	0.368																																						ENST00000367409.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				165						c.(7996-7998)Acc>Gcc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							62.0	56.0	58.0					1																	197070385		2203	4299	6502	SO:0001583	missense	259266	0	0					g.chr1:197070385T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7996A>G	chr1.hg19:g.197070385T>C	ENSP00000356379:p.Thr2666Ala	1					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.T2666A	NM_018136.4	NP_060606.3	1	2	3	2.409186	Q8IZT6	ASPM_HUMAN		18	8252	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	1	1	hg19	c.7996A>G	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.297929	0.23650	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.71461	-0.57	4.87	2.43	0.29744	4.87	2.43	0.29744	.	0.323751	0.26478	N	0.024158	T	0.67859	0.2938	L	0.38838	1.175	0.21473	N	0.999675	P;P	0.51933	0.949;0.587	D;B	0.65987	0.94;0.241	T	0.55289	-0.8164	10	0.22109	T	0.4	.	1.899	0.03264	0.1319:0.1509:0.1367:0.5805	.	652;2666	E7EQ84;Q8IZT6	.;ASPM_HUMAN	A	2666;652	ENSP00000356379:T2666A	ENSP00000356376:T652A	T	-	1	0	0	ASPM	195337008	195337008	0.001000	0.12720	0.197000	0.23402	0.500000	0.33767	0.732000	0.26072	0.259000	0.21709	0.455000	0.32223	ACC	0.468354		TCGA-3A-A9IC-01A-11D-A38G-08	0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	1	0	1	2	2	2	2	0	0	0	0	45	45	45	45	1	1.800000	-20.000000	1	0.370000	NM_018136		0	110	107	0	248	243	1		1	1		0	0	45	0	0	1.000000	6.838121e-01	0	3	0	4	0	110	248
ANKAR	150709	broad.mit.edu	37	2	190603299	190603299	+	Silent	SNP	A	A	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:190603299A>G	ENST00000520309.1	+	19	3679	c.3591A>G	c.(3589-3591)gtA>gtG	p.V1197V	ANKAR_ENST00000313581.4_Silent_p.V1197V|ANKAR_ENST00000431575.2_Silent_p.V1126V|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1197						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGATTGTTGTACTGGCTAAAG	0.313																																						ENST00000520309.1	1.000000	7.200000e-01	1	8.000000e-01	0.890000	0.897897	0.890000	1.000000																										0				46						c.(3589-3591)gtA>gtG		ankyrin and armadillo repeat containing							148.0	149.0	149.0					2																	190603299		2202	4300	6502	SO:0001819	synonymous_variant	150709	0	0					g.chr2:190603299A>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3591A>G	chr2.hg19:g.190603299A>G		0					ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Silent_p.V1197V|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1126V	p.V1197V	NM_144708.3	NP_653309.3	0	0	0	2.056765	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)	19	3679	+			Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	1	1	hg19	c.3591A>G	CCDS33351.2	1																																																																																								0.365303		TCGA-3A-A9IC-01A-11D-A38G-08	0.313	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	1	0	1	2	2	2	2	0	0	0	0	144	144	144	143	1	1.800000	-20.000000	1	0.370000	NM_144708		0	75	74	0	371	364	1		1	0		0	0	144	0	0	1.000000	7.719191e-02	0	0	0	3	0	75	371
PMS1	5378	broad.mit.edu	37	2	190718684	190718684	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:190718684A>G	ENST00000441310.2	+	8	1075	c.842A>G	c.(841-843)aAt>aGt	p.N281S	PMS1_ENST00000409823.3_Missense_Mutation_p.N242S|PMS1_ENST00000432292.3_Missense_Mutation_p.N105S|PMS1_ENST00000418224.3_Missense_Mutation_p.N105S|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.N281S	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	281					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CATCATTACAATCTGAAATGC	0.284			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2	1.000000	8.100000e-01	1	8.800000e-01	0.970000	0.954817	0.970000	1.000000			yes	Rec		Hereditary non-polyposis colorectal cancer	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	2q31-q33	5378	Mis, N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)				E	E		colorectal, endometrial, ovarian			0				36						c.(841-843)aAt>aGt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							73.0	67.0	69.0					2																	190718684		2201	4295	6496	SO:0001583	missense	5378	0	0					g.chr2:190718684A>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.842A>G	chr2.hg19:g.190718684A>G	ENSP00000406490:p.Asn281Ser	0					PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.N281S|PMS1_ENST00000418224.3_Missense_Mutation_p.N105S|PMS1_ENST00000409823.3_Missense_Mutation_p.N242S|PMS1_ENST00000432292.3_Missense_Mutation_p.N105S	p.N281S	NM_000534.4	NP_000525.1	0	0	0	2.056765	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)	8	1075	+			D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	1	1	hg19	c.842A>G	CCDS2302.1	1	.	.	.	.	.	.	.	.	.	.	A	4.982	0.182439	0.09495	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	T;T;D;T;T;T;T	0.83335	-1.35;-1.35;-1.71;-1.35;-1.35;-1.35;-1.35	4.6	-0.982	0.10266	4.6	-0.982	0.10266	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.586689	0.20108	N	0.099081	T	0.61148	0.2324	N	0.11106	0.095	0.25091	N	0.990853	B;B;B;B;B;B;B	0.20368	0.008;0.013;0.025;0.044;0.008;0.027;0.008	B;B;B;B;B;B;B	0.19666	0.026;0.012;0.026;0.022;0.026;0.017;0.026	T	0.48948	-0.8989	10	0.30078	T	0.28	-9.7476	5.5087	0.16868	0.5066:0.2523:0.2411:0.0	.	281;242;242;66;242;281;281	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	S	105;281;105;242;281;105;220;66	ENSP00000406490:N281S;ENSP00000404492:N105S;ENSP00000387125:N242S;ENSP00000401064:N281S;ENSP00000398378:N105S;ENSP00000389938:N220S;ENSP00000387169:N66S	ENSP00000376149:N105S	N	+	2	0	0	PMS1	190426929	190426929	0.457000	0.25752	0.992000	0.48379	0.986000	0.74619	0.421000	0.21280	0.038000	0.15604	0.455000	0.32223	AAT	0.365303		TCGA-3A-A9IC-01A-11D-A38G-08	0.284	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2	1	0	1	2	2	2	2	0	0	0	0	134	134	134	130	1	1.800000	-20.000000	1	0.370000			0	103	102	0	462	454	1		1	0		0	0	134	0	0	1.000000	7.144200e-01	0	1	0	12	0	103	462
BOC	91653	broad.mit.edu	37	3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000355385.3_Missense_Mutation_p.P1062S|BOC_ENST00000273395.4_Missense_Mutation_p.P1063S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1062					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGCCTTGTGCCAGTTGAAGA	0.577																																						ENST00000495514.1	0.080000	0	6.000000e-02	2.000000e-02	0.030000	0.044117	0.030000	0.040000																										0				68						c.(3184-3186)Cca>Tca		BOC cell adhesion associated, oncogene regulated							167.0	180.0	176.0					3																	113005548		2203	4300	6503	SO:0001583	missense	91653	0	0					g.chr3:113005548C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3184C>T	chr3.hg19:g.113005548C>T	ENSP00000418663:p.Pro1062Ser	0					BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S	p.P1062S			1	2	3	2.085297	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)	20	3888	+			A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	0	1	hg19	c.3184C>T	CCDS2971.1	0	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640112	0.87760	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385;ENST00000473008	T;T;T	0.72615	-0.67;-0.66;-0.67	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.78534	0.4298	L	0.32530	0.975	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76545	-0.2920	10	0.42905	T	0.14	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	879;1063;1062	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	1062;1063;1062;38	ENSP00000418663:P1062S;ENSP00000273395:P1063S;ENSP00000347546:P1062S	ENSP00000273395:P1063S	P	+	1	0	0	BOC	114488238	114488238	0.996000	0.38824	0.571000	0.28486	0.991000	0.79684	5.038000	0.64177	2.873000	0.98535	0.561000	0.74099	CCA	0.371163		TCGA-3A-A9IC-01A-11D-A38G-08	0.577	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	0	0	1	2	2	2	2	0	0	0	0	382	382	382	370	1	1.800000	-1.939597	0	0.370000	NM_033254		0	9	9	0	1223	1203	0		1	0		0	0	382	0	0	0.993756	1.143959e-01	0	0	0	70	0	9	1223
TGFBR2	7048	broad.mit.edu	37	3	30732964	30732964	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:30732964A>T	ENST00000295754.5	+	7	1959	c.1577A>T	c.(1576-1578)gAg>gTg	p.E526V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> Q (in esophageal cancer). {ECO:0000269|PubMed:10789724}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACGACCCAGAGGCCCGTCTC	0.597																																						ENST00000295754.5	1.000000	7.200000e-01	9.700000e-01	8.000000e-01	0.890000	0.888883	0.890000	0.920000																										0				53						c.(1576-1578)gAg>gTg		transforming growth factor, beta receptor II (70/80kDa)							71.0	65.0	67.0					3																	30732964		2203	4300	6503	SO:0001583	missense	7048	0	0					g.chr3:30732964A>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1577A>T	chr3.hg19:g.30732964A>T	ENSP00000295754:p.Glu526Val	1					TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551V	p.E526V	NM_003242.5	NP_003233.4	0	1	1	1.704522	P37173	TGFR2_HUMAN		7	1959	+			B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	1	1	hg19	c.1577A>T	CCDS2648.1	1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.007072	0.93287	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.66995	-0.24;-0.24	5.91	5.91	0.95273	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.83188	-0.0085	10	0.72032	D	0.01	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	526;551	P37173;D2JYI1	TGFR2_HUMAN;.	V	526;551;356	ENSP00000295754:E526V;ENSP00000351905:E551V	ENSP00000295754:E526V	E	+	2	0	0	TGFBR2	30707968	30707968	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	9.339000	0.96797	2.266000	0.75297	0.533000	0.62120	GAG	0.226994		TCGA-3A-A9IC-01A-11D-A38G-08	0.597	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	1	0	1	2	2	2	2	0	0	0	0	79	79	79	77	1	1.800000	-20.000000	1	0.370000			0	62	61	0	230	217	1		1	1	1	0	0	79	265	0	1.000000	9.999970e-01	1	12	138	61	467	62	230
HHATL	57467	broad.mit.edu	37	3	42739123	42739123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:42739123G>A	ENST00000441594.1	-	7	1003	c.742C>T	c.(742-744)Cga>Tga	p.R248*	HHATL_ENST00000310417.5_Nonsense_Mutation_p.R248*	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	248					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCTGGGCTCGGATGTGCCAC	0.617																																						ENST00000441594.1	0.160000	2.000000e-02	1.200000e-01	4.000000e-02	0.070000	0.088260	0.070000	0.070000																										0				19						c.(742-744)Cga>Tga		hedgehog acyltransferase-like							103.0	93.0	96.0					3																	42739123		2203	4300	6503	SO:0001587	stop_gained	57467	3	121412	34				g.chr3:42739123G>A	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.742C>T	chr3.hg19:g.42739123G>A	ENSP00000405423:p.Arg248*	1					HHATL_ENST00000310417.5_Nonsense_Mutation_p.R248*	p.R248*	NM_020707.3	NP_065758.3	0	1	1	1.704522	Q9HCP6	HHATL_HUMAN		7	1003	-			Q8TBG3|Q9ULP7	Nonsense_Mutation	SNP	ENST00000441594.1	0	1	hg19	c.742C>T	CCDS2704.1	0	.	.	.	.	.	.	.	.	.	.	g	36	5.690128	0.96793	.	.	ENSG00000010282	ENST00000310417;ENST00000441594;ENST00000341477;ENST00000457462	.	.	.	4.99	4.09	0.47781	4.99	4.09	0.47781	.	0.410133	0.27622	N	0.018551	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-11.3238	14.236	0.65927	0.0:0.0:0.8496:0.1504	.	.	.	.	X	248;248;157;183	.	ENSP00000310621:R248X	R	-	1	2	2	HHATL	42714127	42714127	0.983000	0.35010	0.973000	0.42090	0.737000	0.42083	2.510000	0.45468	1.271000	0.44313	0.558000	0.71614	CGA	0.226994		TCGA-3A-A9IC-01A-11D-A38G-08	0.617	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	0	0	1	2	2	2	2	0	0	0	0	119	119	119	116	1	1.800000	-2.798733	1	0.370000	NM_020707		0	5	5	0	289	284	0		1			0	0	119	0	0	0.935222	0	0	0	0	0	0	5	289
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TATATGGGCCGCACAAGTTTT	0.423																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2	0.110000	1.000000e-02	8.000000e-02	3.000000e-02	0.050000	0.060249	0.050000	0.060000																										0				23						c.(253-255)cGc>cAc		CD86 molecule	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)						143.0	142.0	142.0					3																	121822548		2203	4300	6503	SO:0001583	missense	942	0	0					g.chr3:121822548G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.254G>A	chr3.hg19:g.121822548G>A	ENSP00000332049:p.Arg85His	0					CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H	p.R85H	NM_175862.4	NP_787058	1	2	3	2.085297	P42081	CD86_HUMAN		3	370	+			A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	0	1	hg19	c.254G>A	CCDS3009.1	0	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619268	0.87460	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.72505	1.2;-0.66;-0.66;-0.66	5.54	5.54	0.83059	5.54	5.54	0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.87414	0.6171	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89572	0.3814	10	0.87932	D	0	-18.8448	14.8575	0.70351	0.0:0.0:1.0:0.0	.	85	P42081	CD86_HUMAN	H	3;85;79;79	ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H	ENSP00000332049:R85H	R	+	2	0	0	CD86	123305238	123305238	0.999000	0.42202	0.958000	0.39756	0.915000	0.54546	4.887000	0.63156	2.884000	0.98904	0.655000	0.94253	CGC	0.371163		TCGA-3A-A9IC-01A-11D-A38G-08	0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	0	0	1	2	2	2	2	1	1	1	0	154	154	154	148	1	1.800000	-1.809761	0	0.370000	NM_006889		0	8	8	0	798	785	0		1	0	1	1	0	154	397	0	0.988551	6.949135e-03	9.981516e-01	0	2	11	1181	8	798
ENAM	10117	broad.mit.edu	37	4	71508016	71508016	+	Silent	SNP	A	A	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:71508016A>T	ENST00000396073.3	+	9	1154	c.873A>T	c.(871-873)ccA>ccT	p.P291P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	291					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGATTGGCCCACTCCCTGCAG	0.512																																						ENST00000396073.3	0.190000	3.000000e-02	1.400000e-01	5.000000e-02	0.090000	0.101703	0.090000	0.090000																										0				6						c.(871-873)ccA>ccT		enamelin							66.0	62.0	63.0					4																	71508016		2203	4300	6503	SO:0001819	synonymous_variant	10117	0	0					g.chr4:71508016A>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.873A>T	chr4.hg19:g.71508016A>T		0					ENAM_ENST00000472903.1_Intron	p.P291P	NM_031889.2	NP_114095.2	0	0	0	2.033927	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)	9	1154	+			Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	0	1	hg19	c.873A>T	CCDS3544.2	0																																																																																								0.355696		TCGA-3A-A9IC-01A-11D-A38G-08	0.512	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	0	0	1	2	12	2	2	1	1	1	1	103	103	103	102	1	1.800000	-6.065235	1	0.370000	NM_031889		0	5	5	0	303	292	0		0			1	0	103	0	0	0.058621	0	0	0	0	0	0	5	303
PCDHB12	56124	broad.mit.edu	37	5	140589361	140589361	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:140589361T>G	ENST00000239450.2	+	1	1071	c.882T>G	c.(880-882)atT>atG	p.I294M	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	294	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTTGAAATTAATCAAAAGT	0.398																																						ENST00000239450.2	1.000000	2.800000e-01	4.600000e-01	3.300000e-01	0.380000	0.436942	0.380000	0.380000																										0				83						c.(880-882)atT>atG		protocadherin beta 12							80.0	86.0	84.0					5																	140589361		2203	4300	6503	SO:0001583	missense	56124	0	0					g.chr5:140589361T>G	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.882T>G	chr5.hg19:g.140589361T>G	ENSP00000239450:p.Ile294Met	1					PCDHB12_ENST00000541609.1_Intron	p.I294M	NM_018932.3	NP_061755.1	0	2	2	2.152723	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1071	+			B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	1	1	hg19	c.882T>G	CCDS4254.1	0	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390776	0.25118	.	.	ENSG00000120328	ENST00000239450	T	0.72615	-0.67	4.06	-0.424	0.12321	4.06	-0.424	0.12321	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70622	0.3245	M	0.81614	2.55	0.39524	D	0.968565	P	0.44429	0.835	P	0.49477	0.612	T	0.68341	-0.5434	9	0.59425	D	0.04	.	0.1734	0.00116	0.2491:0.1891:0.1861:0.3757	.	294	Q9Y5F1	PCDBC_HUMAN	M	294	ENSP00000239450:I294M	ENSP00000239450:I294M	I	+	3	3	3	PCDHB12	140569545	140569545	0.000000	0.05858	0.033000	0.17914	0.538000	0.34931	-4.588000	0.00212	0.078000	0.16900	0.402000	0.26972	ATT	0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.398	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	1	0	1	2	2	2	2	0	0	0	0	383	383	383	378	1	1.800000	-20.000000	1	0.370000	NM_018932		0	48	46	0	632	610	0		1			0	0	383	0	0	1.000000	0	0	0	0	0	0	48	632
HMGCR	3156	broad.mit.edu	37	5	74646647	74646647	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:74646647C>T	ENST00000287936.4	+	9	970	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	HMGCR_ENST00000511206.1_Missense_Mutation_p.R272C|HMGCR_ENST00000343975.5_Missense_Mutation_p.R272C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	272					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TGCTCACAGTCGCTGGATAGC	0.368																																						ENST00000287936.4	0.150000	3.000000e-02	1.200000e-01	5.000000e-02	0.080000	0.089568	0.080000	0.080000																										0				20						c.(814-816)Cgc>Tgc		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						128.0	129.0	128.0					5																	74646647		2203	4300	6503	SO:0001583	missense	3156	0	0					g.chr5:74646647C>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.814C>T	chr5.hg19:g.74646647C>T	ENSP00000287936:p.Arg272Cys	1					HMGCR_ENST00000511206.1_Missense_Mutation_p.R272C|HMGCR_ENST00000343975.5_Missense_Mutation_p.R272C	p.R272C	NM_000859.2	NP_000850.1	0	1	1	1.694147	P04035	HMDH_HUMAN		9	970	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	0	1	hg19	c.814C>T	CCDS4027.1	0	.	.	.	.	.	.	.	.	.	.	C	32	5.171053	0.94807	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.59502	0.37;0.37;0.26	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.977;0.945;0.986;0.964	T	0.80067	-0.1537	10	0.72032	D	0.01	-13.5435	20.3248	0.98698	0.0:1.0:0.0:0.0	.	272;272;272;272	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	C	272;203;272;272	ENSP00000426745:R272C;ENSP00000287936:R272C;ENSP00000340816:R272C	ENSP00000287936:R272C	R	+	1	0	0	HMGCR	74682403	74682403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.924000	0.70054	2.818000	0.97014	0.655000	0.94253	CGC	0.226994		TCGA-3A-A9IC-01A-11D-A38G-08	0.368	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2	0	0	1	2	2	2	2	0	0	0	0	169	169	169	167	1	1.800000	-2.520122	1	0.370000			0	7	7	0	381	373	0		1	0		0	0	169	0	0	0.979537	9.671592e-02	0	0	0	25	0	7	381
TCERG1	10915	broad.mit.edu	37	5	145838683	145838683	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:145838683C>T	ENST00000296702.5	+	4	713	c.675C>T	c.(673-675)gcC>gcT	p.A225A	TCERG1_ENST00000394421.2_Silent_p.A225A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	225	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aagcccaagcccaggcccagg	0.701																																						ENST00000296702.5	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				46						c.(673-675)gcC>gcT		transcription elongation regulator 1							16.0	21.0	20.0					5																	145838683		2202	4300	6502	SO:0001819	synonymous_variant	10915	0	0					g.chr5:145838683C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.675C>T	chr5.hg19:g.145838683C>T		1					TCERG1_ENST00000394421.2_Silent_p.A225A	p.A225A	NM_006706.3	NP_006697.2	0	2	2	2.152723	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	4	713	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	1	1	hg19	c.675C>T	CCDS4282.1	1																																																																																								0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.701	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	1	0	1	2	2	2	2	0	0	0	0	94	94	94	93	1	1.800000	-5.695359	1	0.370000	NM_001040006		0	52	50	0	117	114	0		1	1		0	0	94	0	0	1.000000	8.529659e-01	0	3	0	7	0	52	117
REV3L	5980	broad.mit.edu	37	6	111693843	111693843	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:111693843C>G	ENST00000358835.3	-	14	6169	c.5715G>C	c.(5713-5715)caG>caC	p.Q1905H	REV3L_ENST00000435970.1_Missense_Mutation_p.Q1827H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000368805.1_Missense_Mutation_p.Q1905H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1905					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAATGGTTCCTGGTAAATAG	0.383								DNA polymerases (catalytic subunits)																														ENST00000358835.3	0.760000	4.800000e-01	7.000000e-01	5.500000e-01	0.610000	0.627673	0.610000	0.620000																										0				88						c.(5713-5715)caG>caC	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							108.0	114.0	112.0					6																	111693843		2203	4300	6503	SO:0001583	missense	5980	0	0					g.chr6:111693843C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5715G>C	chr6.hg19:g.111693843C>G	ENSP00000351697:p.Gln1905His	0					REV3L_ENST00000435970.1_Missense_Mutation_p.Q1827H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000368805.1_Missense_Mutation_p.Q1905H	p.Q1905H			0	1	1	1.921244	O60673	DPOLZ_HUMAN		14	6169	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	1	1	hg19	c.5715G>C	CCDS5091.2	0	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209683	0.39003	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.03	1.84	0.25277	6.03	1.84	0.25277	Ribonuclease H-like (1);	0.147380	0.49916	D	0.000123	T	0.60637	0.2284	M	0.81341	2.54	0.35196	D	0.773874	D	0.89917	1.0	D	0.83275	0.996	T	0.66069	-0.6015	10	0.87932	D	0	-2.7769	9.4873	0.38937	0.0:0.5989:0.0:0.4011	.	1905	O60673	DPOLZ_HUMAN	H	1905;1905;1905;1827	ENSP00000357792:Q1905H;ENSP00000357795:Q1905H;ENSP00000351697:Q1905H;ENSP00000402003:Q1827H	ENSP00000351697:Q1905H	Q	-	3	2	2	REV3L	111800536	111800536	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	0.348000	0.20031	0.459000	0.27016	-0.140000	0.14226	CAG	0.330357		TCGA-3A-A9IC-01A-11D-A38G-08	0.383	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	1	0	1	2	2	2	2	0	0	0	0	182	182	182	178	1	1.800000	-2.716734	1	0.370000	NM_002912		0	68	68	0	487	478	1		1	0		0	0	182	0	0	1.000000	1.554024e-02	0	0	0	2	0	68	487
ZKSCAN3	80317	broad.mit.edu	37	6	28327520	28327520	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:28327520C>T	ENST00000377255.3	+	3	454	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R53C|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	53	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CCGAGGCTTCCGCTACCCGGA	0.632																																						ENST00000377255.3	0.960000	6.400000e-01	8.900000e-01	7.200000e-01	0.790000	0.807340	0.790000	0.800000																										0				21						c.(157-159)Cgc>Tgc		zinc finger with KRAB and SCAN domains 3							55.0	64.0	61.0					6																	28327520		2203	4300	6503	SO:0001583	missense	80317	1	121406	32				g.chr6:28327520C>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.157C>T	chr6.hg19:g.28327520C>T	ENSP00000366465:p.Arg53Cys	0					ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R53C|ZKSCAN3_ENST00000341464.5_Intron	p.R53C	NM_001242894.1	NP_001229823.1	0	0	0	1.923057	Q9BRR0	ZKSC3_HUMAN		3	454	+			B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	1	1	hg19	c.157C>T	CCDS4650.1	0	.	.	.	.	.	.	.	.	.	.	.	13.62	2.292117	0.40594	.	.	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.04317	3.65;3.65	3.83	1.03	0.20045	3.83	1.03	0.20045	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.03608	0.0103	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54084	-0.8346	9	0.35671	T	0.21	.	2.8501	0.05555	0.3008:0.3842:0.0:0.315	.	53	Q9BRR0	ZKSC3_HUMAN	C	53	ENSP00000252211:R53C;ENSP00000366465:R53C	ENSP00000252211:R53C	R	+	1	0	0	ZKSCAN3	28435499	28435499	0.711000	0.27906	0.995000	0.50966	0.580000	0.36256	-0.636000	0.05465	0.404000	0.25506	0.557000	0.71058	CGC	0.319654		TCGA-3A-A9IC-01A-11D-A38G-08	0.632	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	1	0	1	2	2	2	2	0	0	0	0	243	243	243	241	1	1.800000	-2.780571	1	0.370000	NM_024493		0	81	79	0	423	421	1		1	0		0	0	243	0	0	1.000000	1.262818e-01	0	0	0	4	0	81	423
SYNE1	23345	broad.mit.edu	37	6	152763329	152763329	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:152763329C>T	ENST00000367255.5	-	31	4490	c.3889G>A	c.(3889-3891)Gcg>Acg	p.A1297T	SYNE1_ENST00000423061.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1287T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1363T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1297T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1304T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1297					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCGCCTGCGCGATCTGCTGC	0.557										HNSCC(10;0.0054)																												ENST00000367255.5	0.950000	5.700000e-01	8.600000e-01	6.500000e-01	0.750000	0.761410	0.750000	0.760000																										0				524						c.(3889-3891)Gcg>Acg		spectrin repeat containing, nuclear envelope 1							79.0	70.0	73.0					6																	152763329		2203	4300	6503	SO:0001583	missense	23345	7	121406	38				g.chr6:152763329C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3889G>A	chr6.hg19:g.152763329C>T	ENSP00000356224:p.Ala1297Thr	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.A1363T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1297T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1287T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1304T	p.A1297T	NM_182961.3	NP_892006.3	0	1	1	1.921244	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	31	4490	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.3889G>A	CCDS5236.2	0	.	.	.	.	.	.	.	.	.	.	c	0.960	-0.703603	0.03255	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87334	0.75;0.75;0.65;0.75;0.85;-2.15;-2.24;-2.24	5.41	2.71	0.32032	5.41	2.71	0.32032	.	1.087730	0.07067	N	0.834808	T	0.59432	0.2193	L	0.28274	0.84	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.001;0.002;0.003;0.001;0.002	B;B;B;B;B;B	0.06405	0.002;0.0;0.001;0.002;0.0;0.002	T	0.47381	-0.9122	10	0.19147	T	0.46	.	5.2817	0.15678	0.1385:0.5754:0.0:0.2861	.	1280;1297;1287;1297;1297;1304	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	T	1297;1304;1297;1304;1363;1297;1287;1297	ENSP00000356224:A1297T;ENSP00000396024:A1304T;ENSP00000265368:A1297T;ENSP00000390975:A1304T;ENSP00000341887:A1363T;ENSP00000356222:A1297T;ENSP00000356217:A1287T;ENSP00000414510:A1297T	ENSP00000265368:A1297T	A	-	1	0	0	SYNE1	152805022	152805022	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.645000	0.24782	0.367000	0.24454	-0.127000	0.14921	GCG	0.330357		TCGA-3A-A9IC-01A-11D-A38G-08	0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	2	2	2	2	0	0	0	0	134	134	134	134	1	1.800000	-19.999360	1	0.370000	NM_182961		0	48	47	0	275	271	1		1			0	0	134	0	0	1.000000	0	0	0	0	0	0	48	275
EPO	2056	broad.mit.edu	37	7	100320671	100320671	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:100320671G>A	ENST00000252723.2	+	5	678	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	166					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACACTTTCCGCAAACTCTTC	0.572																																						ENST00000252723.2	0.120000	1.000000e-02	9.000000e-02	3.000000e-02	0.050000	0.061896	0.050000	0.060000																										0				12						c.(496-498)cGc>cAc		erythropoietin							126.0	129.0	128.0					7																	100320671		2203	4300	6503	SO:0001583	missense	2056	1	121412	35				g.chr7:100320671G>A	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.497G>A	chr7.hg19:g.100320671G>A	ENSP00000252723:p.Arg166His	0						p.R166H	NM_000799.2	NP_000790.2	1	2	3	2.085380	P01588	EPO_HUMAN		5	678	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	0	1	hg19	c.497G>A	CCDS5705.1	0	.	.	.	.	.	.	.	.	.	.	G	8.531	0.870924	0.17322	.	.	ENSG00000130427	ENST00000252723	T	0.48836	0.8	5.27	2.26	0.28386	5.27	2.26	0.28386	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.580439	0.18303	N	0.145360	T	0.23014	0.0556	N	0.08118	0	0.19775	N	0.99996	B;B	0.23806	0.091;0.091	B;B	0.08055	0.003;0.003	T	0.11616	-1.0580	10	0.46703	T	0.11	-36.0186	6.5646	0.22505	0.0954:0.3568:0.5478:0.0	.	165;166	B7ZKK5;P01588	.;EPO_HUMAN	H	166	ENSP00000252723:R166H	ENSP00000252723:R166H	R	+	2	0	0	EPO	100158607	100158607	0.997000	0.39634	0.797000	0.32132	0.101000	0.19017	1.375000	0.34295	1.333000	0.45449	0.643000	0.83706	CGC	0.371163		TCGA-3A-A9IC-01A-11D-A38G-08	0.572	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	0	0	1	2	2	2	2	0	0	0	0	244	244	244	239	1	1.800000	-2.074488	0	0.370000	NM_000799		0	6	6	0	603	587	0		1			0	0	244	0	0	0.962119	0	0	0	0	0	0	6	603
MUC17	140453	broad.mit.edu	37	7	100687041	100687041	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:100687041C>T	ENST00000306151.4	+	3	12408	c.12344C>T	c.(12343-12345)aCg>aTg	p.T4115M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4115					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGTCCCCACGAATACTACA	0.478																																						ENST00000306151.4	1.000000	5.600000e-01	8.800000e-01	6.600000e-01	0.760000	0.773231	0.760000	0.760000																										0				343						c.(12343-12345)aCg>aTg		mucin 17, cell surface associated							135.0	141.0	139.0					7																	100687041		2203	4300	6503	SO:0001583	missense	140453	0	0					g.chr7:100687041C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12344C>T	chr7.hg19:g.100687041C>T	ENSP00000302716:p.Thr4115Met	0						p.T4115M	NM_001040105.1	NP_001035194.1	1	2	3	2.085380	Q685J3	MUC17_HUMAN		3	12408	+	Lung NSC(181;0.136)|all_lung(186;0.182)		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	1	1	hg19	c.12344C>T	CCDS34711.1	0	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.875680	0.00537	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	1.06	-2.11	0.07187	1.06	-2.11	0.07187	.	.	.	.	.	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	P	0.35793	0.521	B	0.23419	0.046	T	0.35450	-0.9788	9	0.45353	T	0.12	.	4.3146	0.10986	0.0:0.4556:0.3533:0.1911	.	4115	Q685J3	MUC17_HUMAN	M	4115	ENSP00000302716:T4115M	ENSP00000302716:T4115M	T	+	2	0	0	MUC17	100473761	100473761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.644000	0.02002	-3.376000	0.00176	-3.452000	0.00036	ACG	0.371163		TCGA-3A-A9IC-01A-11D-A38G-08	0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	1	0	1	2	2	2	2	0	0	0	0	131	131	131	127	1	1.800000	-19.722340	1	0.370000	NM_001040105		0	43	42	0	261	254	1		1	0		0	0	131	0	0	1.000000	0	0	0	0	1	0	43	261
PRPS1L1	221823	broad.mit.edu	37	7	18067282	18067282	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:18067282C>T	ENST00000506618.2	-	1	204	c.124G>A	c.(124-126)Gtg>Atg	p.V42M		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	42					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCAATTTCCACGCAGGTCTCC	0.502																																						ENST00000506618.2	0.120000	2.000000e-02	9.000000e-02	4.000000e-02	0.060000	0.081437	0.060000	0.060000																										0				18						c.(124-126)Gtg>Atg		phosphoribosyl pyrophosphate synthetase 1-like 1							269.0	264.0	266.0					7																	18067282		2203	4300	6503	SO:0001583	missense	221823	3	121412	40				g.chr7:18067282C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.124G>A	chr7.hg19:g.18067282C>T	ENSP00000424595:p.Val42Met	0						p.V42M	NM_175886.2	NP_787082	1	2	3	2.090516	P21108	PRPS3_HUMAN		1	204	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	0	1	hg19	c.124G>A	CCDS47552.1	0	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066850	0.76301	.	.	ENSG00000229937	ENST00000506618	D	0.93019	-3.15	4.27	4.27	0.50696	4.27	4.27	0.50696	.	.	.	.	.	D	0.97629	0.9223	H	0.96547	3.84	.	.	.	D	0.89917	1.0	D	0.78314	0.991	D	0.98556	1.0639	8	0.87932	D	0	.	14.5862	0.68326	0.0:1.0:0.0:0.0	.	42	P21108	PRPS3_HUMAN	M	42	ENSP00000424595:V42M	ENSP00000424595:V42M	V	-	1	0	0	PRPS1L1	18033807	18033807	1.000000	0.71417	0.965000	0.40720	0.909000	0.53808	5.366000	0.66122	2.375000	0.81037	0.555000	0.69702	GTG	0.372322		TCGA-3A-A9IC-01A-11D-A38G-08	0.502	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	0	0	1	2	2	2	2	0	0	0	0	357	357	357	347	1	1.800000	-2.598738	1	0.370000	NM_175886		0	12	12	0	959	939	0		1			0	0	357	0	0	0.998978	0	0	0	0	0	0	12	959
PKD1L1	168507	broad.mit.edu	37	7	47898412	47898412	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:47898412C>T	ENST00000289672.2	-	27	4271	c.4221G>A	c.(4219-4221)ggG>ggA	p.G1407G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1407	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCACAAATGGCCCCGAGAACT	0.478																																						ENST00000289672.2	0.180000	2.000000e-02	1.300000e-01	5.000000e-02	0.080000	0.094815	0.080000	0.080000																									BBS9/PKD1L1(2)	0				142						c.(4219-4221)ggG>ggA		polycystic kidney disease 1 like 1							89.0	85.0	87.0					7																	47898412		2203	4300	6503	SO:0001819	synonymous_variant	168507	0	0					g.chr7:47898412C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4221G>A	chr7.hg19:g.47898412C>T		0						p.G1407G	NM_138295.3	NP_612152.1	1	2	3	2.085380	Q8TDX9	PK1L1_HUMAN		27	4271	-			Q6UWK1	Silent	SNP	ENST00000289672.2	0	1	hg19	c.4221G>A	CCDS34633.1	0																																																																																								0.371163		TCGA-3A-A9IC-01A-11D-A38G-08	0.478	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	0	0	0	2	2	2	2	0	0	0	0	145	145	145	142	1	1.800000	-4.339413	1	0.370000	NM_138295		0	5	5	0	334	329	0		1			0	0	145	0	0	0.935523	0	0	0	0	0	0	5	334
DNAJC30	84277	broad.mit.edu	37	7	73097630	73097630	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:73097630C>A	ENST00000395176.2	-	1	153	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	42						mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						TACGAGCAGTCGCCCTGGGAA	0.607																																						ENST00000395176.2	1.000000	7.300000e-01	1	8.100000e-01	0.900000	0.900473	0.900000	1.000000																										0				4						c.(124-126)Gac>Tac		DnaJ (Hsp40) homolog, subfamily C, member 30							80.0	92.0	88.0					7																	73097630		2200	4293	6493	SO:0001583	missense	84277	0	0					g.chr7:73097630C>A	AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"""Heat shock proteins / DNAJ (HSP40)"""	16410	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 18"""	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.124G>T	chr7.hg19:g.73097630C>A	ENSP00000378605:p.Asp42Tyr	0					WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR	p.D42Y	NM_032317.2	NP_115693.2	1	2	3	2.085380	Q96LL9	DJC30_HUMAN		1	153	-			Q9BSG8	Missense_Mutation	SNP	ENST00000395176.2	1	1	hg19	c.124G>T	CCDS5556.1	1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297340	0.60086	.	.	ENSG00000176410	ENST00000395176;ENST00000539255	T	0.57907	0.37	4.66	3.77	0.43336	4.66	3.77	0.43336	Heat shock protein DnaJ, N-terminal (1);	0.393472	0.19126	N	0.122048	T	0.50803	0.1637	L	0.29908	0.895	0.29622	N	0.846083	D	0.62365	0.991	P	0.57283	0.817	T	0.47548	-0.9109	10	0.51188	T	0.08	-13.1658	6.82	0.23852	0.0:0.7956:0.0:0.2044	.	42	Q96LL9	DJC30_HUMAN	Y	42;39	ENSP00000378605:D42Y	ENSP00000378605:D42Y	D	-	1	0	0	DNAJC30	72735566	72735566	0.000000	0.05858	0.033000	0.17914	0.023000	0.10783	0.068000	0.14531	1.167000	0.42706	0.655000	0.94253	GAC	0.371163		TCGA-3A-A9IC-01A-11D-A38G-08	0.607	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2	1	0	1	2	2	2	2	0	0	0	0	261	261	261	259	1	1.800000	-20.000000	1	0.370000			0	82	79	0	409	399	1		1	1		0	0	261	0	0	1.000000	9.824028e-01	0	7	0	27	0	82	409
GTPBP10	85865	broad.mit.edu	37	7	89984432	89984432	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:89984432G>A	ENST00000222511.6	+	4	418	c.352G>A	c.(352-354)Gta>Ata	p.V118I	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	118					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						CAGAATTTTGGTAGCTCAAGG	0.318																																						ENST00000222511.6	0.120000	2.000000e-02	9.000000e-02	4.000000e-02	0.060000	0.071473	0.060000	0.060000																										0				10						c.(352-354)Gta>Ata		GTP-binding protein 10 (putative)							93.0	99.0	97.0					7																	89984432		2203	4299	6502	SO:0001583	missense	85865	0	0					g.chr7:89984432G>A		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.352G>A	chr7.hg19:g.89984432G>A	ENSP00000222511:p.Val118Ile	0					GTPBP10_ENST00000257659.8_Intron	p.V118I	NM_033107.3	NP_149098.2	1	2	3	2.085380	A4D1E9	GTPBA_HUMAN		4	418	+			B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	0	1	hg19	c.352G>A	CCDS5617.1	0	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207693	0.58343	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000222511	T;T;T	0.23147	1.92;1.92;1.92	5.93	1.65	0.23941	5.93	1.65	0.23941	GTP1/OBG subdomain (3);	0.255751	0.38111	N	0.001808	T	0.20047	0.0482	N	0.25825	0.765	0.41162	D	0.986103	P;B;B	0.34639	0.461;0.142;0.087	B;B;B	0.40940	0.186;0.134;0.344	T	0.04723	-1.0931	9	.	.	.	-5.9962	11.8274	0.52275	0.2753:0.0:0.7247:0.0	.	118;109;135	A4D1E9;C9J8R7;C9JNI1	GTPBA_HUMAN;.;.	I	109;135;118	ENSP00000405697:V109I;ENSP00000389510:V135I;ENSP00000222511:V118I	.	V	+	1	0	0	GTPBP10	89822368	89822368	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	4.014000	0.57145	0.417000	0.25871	0.655000	0.94253	GTA	0.371163		TCGA-3A-A9IC-01A-11D-A38G-08	0.318	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	0	0	1	2	2	2	2	0	0	0	0	199	199	199	196	1	1.800000	-6.299759	1	0.370000	NM_033107		0	9	9	0	745	729	0		1	0		0	0	199	0	0	0.993655	1.335882e-02	0	0	0	13	0	9	745
DPP6	1804	broad.mit.edu	37	7	154585899	154585899	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:154585899G>A	ENST00000377770.3	+	11	1388	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	DPP6_ENST00000404039.1_Missense_Mutation_p.G352E|DPP6_ENST00000332007.3_Missense_Mutation_p.G354E|DPP6_ENST00000427557.1_Missense_Mutation_p.G309E			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	416					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCCACCACGGGGGTCTGCACG	0.672																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000377770.3	1.000000	6.800000e-01	1	8.500000e-01	0.990000	0.948760	0.990000	1.000000																										0				71						c.(1246-1248)gGg>gAg		dipeptidyl-peptidase 6							25.0	28.0	27.0					7																	154585899		2047	4184	6231	SO:0001583	missense	1804	0	0					g.chr7:154585899G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1247G>A	chr7.hg19:g.154585899G>A	ENSP00000367001:p.Gly416Glu	0					DPP6_ENST00000427557.1_Missense_Mutation_p.G309E|DPP6_ENST00000332007.3_Missense_Mutation_p.G354E|DPP6_ENST00000404039.1_Missense_Mutation_p.G352E	p.G416E			1	2	3	2.102029	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)	11	1388	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)		Missense_Mutation	SNP	ENST00000377770.3	1	1	hg19	c.1247G>A		1	.	.	.	.	.	.	.	.	.	.	G	35	5.469040	0.96274	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.21	4.21	0.49690	4.21	4.21	0.49690	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.91406	3.205	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.91635	0.969;0.997;0.999;0.998	T	0.79683	-0.1701	10	0.59425	D	0.04	-17.0272	16.5503	0.84471	0.0:0.0:1.0:0.0	.	309;354;416;352	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	E	352;416;354;309	ENSP00000385578:G352E;ENSP00000367001:G416E;ENSP00000328226:G354E;ENSP00000397303:G309E	ENSP00000328226:G354E	G	+	2	0	0	DPP6	154216832	154216832	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	9.205000	0.95048	2.070000	0.61991	0.650000	0.86243	GGG	0.374628		TCGA-3A-A9IC-01A-11D-A38G-08	0.672	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	1	0	1	2	2	2	2	0	0	0	0	40	40	40	39	1	1.800000	-20.000000	1	0.370000	NM_130797		0	19	18	0	79	78	1		1	0		0	0	40	0	0	0.999995	0	0	0	0	1	0	19	79
ADCY8	114	broad.mit.edu	37	8	131916097	131916097	+	Missense_Mutation	SNP	C	C	T	rs386730061|rs557075212	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr8:131916097C>T	ENST00000286355.5	-	7	3924	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R611Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	611					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTGTTTCTCCGGTCTGAGGA	0.478										HNSCC(32;0.087)																												ENST00000286355.5	0.940000	5.500000e-01	8.400000e-01	6.400000e-01	0.730000	0.747315	0.730000	0.740000																										0				134						c.(1831-1833)cGg>cAg		adenylate cyclase 8 (brain)							104.0	93.0	97.0					8																	131916097		2203	4300	6503	SO:0001583	missense	114	28	121412	46				g.chr8:131916097C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1832G>A	chr8.hg19:g.131916097C>T	ENSP00000286355:p.Arg611Gln	0	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R611Q	p.R611Q	NM_001115.2	NP_001106.1	0	0	0	2.068528	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)	7	3924	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)			Missense_Mutation	SNP	ENST00000286355.5	1	1	hg19	c.1832G>A	CCDS6363.1	0	.	.	.	.	.	.	.	.	.	.	c	15.47	2.843171	0.51057	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.81247	-1.34;-1.37;-1.47	6.17	3.43	0.39272	6.17	3.43	0.39272	.	0.333655	0.37136	N	0.002223	T	0.71685	0.3369	L	0.55213	1.73	0.22292	N	0.999227	B;B	0.14012	0.004;0.009	B;B	0.08055	0.002;0.003	T	0.54282	-0.8317	10	0.15952	T	0.53	.	8.9319	0.35675	0.0:0.743:0.1241:0.1329	.	611;611	E7EVL1;P40145	.;ADCY8_HUMAN	Q	611;611;226	ENSP00000286355:R611Q;ENSP00000367161:R611Q;ENSP00000428010:R226Q	ENSP00000286355:R611Q	R	-	2	0	0	ADCY8	131985279	131985279	1.000000	0.71417	0.984000	0.44739	0.292000	0.27327	1.969000	0.40510	0.945000	0.37605	-0.119000	0.15052	CGG	0.367660		TCGA-3A-A9IC-01A-11D-A38G-08	0.478	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1	0	0	1	2	2	2	2	0	0	0	0	91	91	91	90	1	1.800000	-2.599298	1	0.370000			0	47	45	0	295	290	1		1			0	0	91	0	0	1.000000	0	0	0	0	0	0	47	295
ARSF	416	broad.mit.edu	37	X	3002668	3002668	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:3002668G>T	ENST00000381127.1	+	6	1012	c.791G>T	c.(790-792)gGa>gTa	p.G264V	ARSF_ENST00000359361.2_Missense_Mutation_p.G264V|ARSF_ENST00000537104.1_Missense_Mutation_p.G264V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	264					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAACGAGCTGGATCCATTATG	0.448																																						ENST00000381127.1	1.000000	6.000000e-01	9.200000e-01	6.900000e-01	0.800000	0.811353	0.800000	1.000000																										0				38						c.(790-792)gGa>gTa		arylsulfatase F							58.0	51.0	53.0					X																	3002668		2203	4300	6503	SO:0001583	missense	416	0	0					g.chrX:3002668G>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.791G>T	chrX.hg19:g.3002668G>T	ENSP00000370519:p.Gly264Val						ARSF_ENST00000359361.2_Missense_Mutation_p.G264V|ARSF_ENST00000537104.1_Missense_Mutation_p.G264V	p.G264V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	0	1	1		P54793	ARSF_HUMAN		6	1012	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	1	1	hg19	c.791G>T	CCDS14123.1	0	.	.	.	.	.	.	.	.	.	.	G	4.411	0.075973	0.08485	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98474	-4.95;-4.95;-4.95	2.99	2.99	0.34606	2.99	2.99	0.34606	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.279575	0.32987	U	0.005404	D	0.95401	0.8507	N	0.11870	0.19	0.09310	N	1	B	0.22851	0.076	B	0.40329	0.326	D	0.91487	0.5209	10	0.62326	D	0.03	.	9.713	0.40256	0.0:0.4614:0.5386:0.0	.	264	P54793	ARSF_HUMAN	V	264	ENSP00000370519:G264V;ENSP00000445594:G264V;ENSP00000352319:G264V	ENSP00000352319:G264V	G	+	2	0	0	ARSF	3012668	3012668	0.001000	0.12720	0.292000	0.24919	0.582000	0.36321	0.559000	0.23485	1.099000	0.41499	0.534000	0.68092	GGA	0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.448	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1	1	0	1	2	2	2	2	0	0	0	0	96	96	96	95	1	1.800000	-20.000000	1	0.370000			0	44	44	0	251	250	1		1			0	0	96	0	0	1.000000	0	0	0	0	0	0	44	251
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:17770059C>T	ENST00000380041.3	+	7	1156	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_ENST00000380043.3_Silent_p.C249C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000398080.1_Silent_p.C155C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448																																						ENST00000380041.3	0.070000	0	5.000000e-02	1.000000e-02	0.030000	0.037747	0.030000	0.040000																										0				10						c.(826-828)tgC>tgT		sex comb on midleg-like 1 (Drosophila)							377.0	317.0	337.0					X																	17770059		2203	4300	6503	SO:0001819	synonymous_variant	6322	0	0					g.chrX:17770059C>T		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.828C>T	chrX.hg19:g.17770059C>T							SCML1_ENST00000380043.3_Silent_p.C249C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C	p.C276C	NM_001037540.1	NP_001032629.1	0	1	1		Q9UN30	SCML1_HUMAN		7	1156	+	Hepatocellular(33;0.183)		B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	0	1	hg19	c.828C>T	CCDS35210.1	0																																																																																								0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.448	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	0	0	1	2	2	2	2	0	0	0	0	472	472	472	463	1	1.800000	-1.737486	0	0.370000	NM_006746		0	10	10	0	1575	1547	0		1	0		0	0	472	0	0	0.996565	3.848264e-03	0	0	0	13	0	10	1575
DMD	1756	broad.mit.edu	37	X	32503058	32503058	+	Silent	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:32503058G>A	ENST00000357033.4	-	21	2987	c.2781C>T	c.(2779-2781)gcC>gcT	p.A927A	DMD_ENST00000378677.2_Silent_p.A923A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	927					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTCTCTCTGGCCTGCACAT	0.408																																						ENST00000357033.4	1.000000	6.900000e-01	1	8.000000e-01	0.920000	0.910760	0.920000	1.000000																										0				77						c.(2779-2781)gcC>gcT		dystrophin							120.0	103.0	108.0					X																	32503058		2202	4300	6502	SO:0001819	synonymous_variant	1756	0	0					g.chrX:32503058G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2781C>T	chrX.hg19:g.32503058G>A							DMD_ENST00000378677.2_Silent_p.A923A	p.A927A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	0	1	1		P11532	DMD_HUMAN		21	2987	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	1	1	hg19	c.2781C>T	CCDS14233.1	1																																																																																								0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	0	0	1	2	11	2	2	1	1	1	1	99	99	99	99	1	1.800000	-19.999910	1	0.370000	NM_004006		0	44	44	0	212	210	1		1	0		1	0	99	0	0	1.000000	1.441578e-01	0	0	0	4	0	44	212
ALAS2	212	broad.mit.edu	37	X	55042077	55042077	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:55042077G>A	ENST00000330807.5	-	8	1239	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	ALAS2_ENST00000335854.4_Missense_Mutation_p.R331W|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.R355W	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	368					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CCAGCGCCCCGGGACCCATAC	0.527																																						ENST00000330807.5	0.330000	9.000000e-02	2.600000e-01	1.300000e-01	0.190000	0.203809	0.190000	0.180000																										0				17						c.(1102-1104)Cgg>Tgg		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						83.0	70.0	74.0					X																	55042077		2203	4300	6503	SO:0001583	missense	212	0	0					g.chrX:55042077G>A		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1102C>T	chrX.hg19:g.55042077G>A	ENSP00000332369:p.Arg368Trp						ALAS2_ENST00000396198.3_Missense_Mutation_p.R355W|ALAS2_ENST00000335854.4_Missense_Mutation_p.R331W|ALAS2_ENST00000498636.1_5'UTR	p.R368W	NM_000032.4	NP_000023.2	0	1	1		P22557	HEM0_HUMAN		8	1239	-			A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	1	1	hg19	c.1102C>T	CCDS14366.1	0	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293539	0.60086	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.95238	-3.65;-3.65;-3.65	5.75	2.8	0.32819	5.75	2.8	0.32819	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.169618	0.52532	D	0.000065	D	0.97561	0.9201	H	0.94658	3.565	0.32571	N	0.529787	D;D;D	0.76494	0.994;0.999;0.999	P;D;P	0.64144	0.875;0.922;0.875	D	0.98784	1.0733	10	0.87932	D	0	-12.041	13.6877	0.62526	0.0:0.0:0.6071:0.3929	.	331;355;368	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	W	368;355;331	ENSP00000332369:R368W;ENSP00000379501:R355W;ENSP00000337131:R331W	ENSP00000332369:R368W	R	-	1	2	2	ALAS2	55058802	55058802	0.446000	0.25665	0.975000	0.42487	0.674000	0.39518	2.674000	0.46867	0.654000	0.30846	0.594000	0.82650	CGG	0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.527	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	0	0	1	2	2	2	2	0	0	0	0	85	85	85	85	1	1.800000	-2.806910	1	0.370000	NM_000032		0	10	10	0	278	273	0		1			0	0	85	0	0	0.996683	0	0	0	0	0	0	10	278
TCEAL2	140597	broad.mit.edu	37	X	101382205	101382205	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:101382205C>T	ENST00000372780.1	+	3	622	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	TCEAL2_ENST00000329035.2_Missense_Mutation_p.P135S	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GGATGATATACCCAGGAAAGC	0.483																																						ENST00000372780.1	1.000000	7.400000e-01	9.800000e-01	8.100000e-01	0.890000	0.898694	0.890000	1.000000																										0				11						c.(403-405)Ccc>Tcc		transcription elongation factor A (SII)-like 2							104.0	103.0	103.0					X																	101382205		2203	4300	6503	SO:0001583	missense	140597	0	0					g.chrX:101382205C>T	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.403C>T	chrX.hg19:g.101382205C>T	ENSP00000361866:p.Pro135Ser						TCEAL2_ENST00000329035.2_Missense_Mutation_p.P135S	p.P135S	NM_080390.3	NP_525129.1	0	1	1		Q9H3H9	TCAL2_HUMAN		3	622	+			B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	1	1	hg19	c.403C>T	CCDS14496.1	1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461939	0.43736	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.09445	2.98;2.98	3.43	2.57	0.30868	3.43	2.57	0.30868	.	0.000000	0.47093	D	0.000250	T	0.26448	0.0646	M	0.74258	2.255	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.02581	-1.1138	10	0.62326	D	0.03	.	5.8361	0.18607	0.0:0.8506:0.0:0.1494	.	135	Q9H3H9	TCAL2_HUMAN	S	135	ENSP00000361866:P135S;ENSP00000332359:P135S	ENSP00000332359:P135S	P	+	1	0	0	TCEAL2	101268861	101268861	0.637000	0.27216	0.037000	0.18230	0.992000	0.81027	1.350000	0.34010	0.824000	0.34613	0.594000	0.82650	CCC	0.370000		TCGA-3A-A9IC-01A-11D-A38G-08	0.483	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	1	0	1	2	2	2	2	0	0	0	0	218	218	218	219	1	1.800000	-20.000000	1	0.370000	NM_080390		0	97	96	0	485	470	1		1	0		0	0	218	0	0	1.000000	6.645291e-01	0	0	0	13	0	97	485
