#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRDM2	7799	broad.mit.edu	37	1	14107311	14107311	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:14107311C>T	ENST00000235372.7	+	8	3877	c.3021C>T	c.(3019-3021)tgC>tgT	p.C1007C	PRDM2_ENST00000343137.4_Silent_p.C806C|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.C806C|PRDM2_ENST00000311066.5_Silent_p.C1007C|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1007	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C1007C(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CACACCCATGCCCCTCTCCAC	0.617																																							uc001avi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3019-3021)TGC>TGT		retinoblastoma protein-binding zinc finger							145.0	126.0	132.0					1																	14107311		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107311C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3021C>T	1.37:g.14107311C>T						PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.C1007C|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.C806C|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.C1007C	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3877	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1007			Pro-rich.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.3021C>T	CCDS150.1																																																																																				0.617	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		5	120	0	0	0	0.000602	0	5	120				
UBR4	23352	broad.mit.edu	37	1	19481946	19481946	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:19481946C>T	ENST00000375254.3	-	43	6316	c.6289G>A	c.(6289-6291)Gag>Aag	p.E2097K	UBR4_ENST00000375217.2_Missense_Mutation_p.E2097K|UBR4_ENST00000375226.2_Missense_Mutation_p.E2097K|UBR4_ENST00000375267.2_Missense_Mutation_p.E2097K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2097					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E2097K(2)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCAGGTCCTCATGATTGATT	0.398																																							uc001bbi.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(6289-6291)GAG>AAG		retinoblastoma-associated factor 600							73.0	72.0	73.0					1																	19481946		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19481946C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6289G>A	1.37:g.19481946C>T	ENSP00000364403:p.Glu2097Lys					UBR4_uc001bbl.1_Missense_Mutation_p.E34K|UBR4_uc001bbm.1_Missense_Mutation_p.E1308K	p.E2097K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	43	6293	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2097					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.6289G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982215	0.93044	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.23147	1.93;1.93;1.92;1.92	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.15955	0.0384	N	0.03608	-0.345	0.80722	D	1	P;P	0.44578	0.838;0.608	B;B	0.43052	0.406;0.074	T	0.15235	-1.0444	10	0.30078	T	0.28	.	18.7937	0.91985	0.0:1.0:0.0:0.0	.	2097;2097	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	K	2097;2097;2097;2097;807;1313	ENSP00000364403:E2097K;ENSP00000364416:E2097K;ENSP00000364365:E2097K;ENSP00000364374:E2097K	ENSP00000364365:E2097K	E	-	1	0	UBR4	19354533	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.130000	0.77235	2.670000	0.90874	0.650000	0.86243	GAG		0.398	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		5	85	0	0	0	0.000602	0	5	85				
PLA2G2D	26279	broad.mit.edu	37	1	20442055	20442055	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:20442055G>A	ENST00000375105.3	-	3	295	c.237C>T	c.(235-237)tgC>tgT	p.C79C		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	79					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.C79C(1)		endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTAGATGCTGCACCCCTGGG	0.582										Multiple Myeloma(11;0.12)																											Melanoma(60;742 1548 31762 39240)	Melanoma(60;742 1548 31762 39240)	uc001bcz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(235-237)TGC>TGT		phospholipase A2, group IID precursor																																				SO:0001819	synonymous_variant	26279				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20442055G>A	AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.237C>T	1.37:g.20442055G>A		Multiple Myeloma(11;0.12)				PLA2G2D_uc009vpo.2_Intron	p.C79C	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	254	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	79					A8K2Z1|B1AEL9|Q9UK01	Silent	SNP	ENST00000375105.3	37	c.237C>T	CCDS203.1																																																																																				0.582	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007683.1			9	116	0	0	0	0.010729	0	9	116				
MTF1	4520	broad.mit.edu	37	1	38288038	38288038	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:38288038A>G	ENST00000373036.4	-	9	1662	c.1522T>C	c.(1522-1524)Tca>Cca	p.S508P		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	508					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S508P(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCCGCTGCTGATGCAGAAGCC	0.587																																							uc001cce.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1522-1524)TCA>CCA		metal-regulatory transcription factor 1							43.0	40.0	41.0					1																	38288038		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38288038A>G	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1522T>C	1.37:g.38288038A>G	ENSP00000362127:p.Ser508Pro					MTF1_uc009vvj.1_Missense_Mutation_p.S199P	p.S508P	NM_005955	NP_005946	Q14872	MTF1_HUMAN			9	1663	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	508					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1522T>C	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	A	6.924	0.540221	0.13250	.	.	ENSG00000188786	ENST00000373036	T	0.51817	0.69	4.48	-1.05	0.10036	.	1.263460	0.05371	N	0.535325	T	0.22898	0.0553	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13124	-1.0521	10	0.20519	T	0.43	.	2.8082	0.05433	0.1858:0.5122:0.1512:0.1509	.	508	Q14872	MTF1_HUMAN	P	508	ENSP00000362127:S508P	ENSP00000362127:S508P	S	-	1	0	MTF1	38060625	0.061000	0.20836	0.814000	0.32528	0.977000	0.68977	0.435000	0.21510	-0.039000	0.13602	-0.313000	0.08912	TCA		0.587	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		3	43	0	0	0	0.004672	0	3	43				
CLCA2	9635	broad.mit.edu	37	1	86909605	86909605	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:86909605G>A	ENST00000370565.4	+	10	1786	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	542					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.D542N(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TATATTATTTGATCCTGATGG	0.398																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1624-1626)GAT>AAT		chloride channel accessory 2 precursor							132.0	126.0	128.0					1																	86909605		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86909605G>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1624G>A	1.37:g.86909605G>A	ENSP00000359596:p.Asp542Asn						p.D542N	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	10	1786	+		Lung NSC(277;0.238)	542			Extracellular (Potential).		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.1624G>A	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637211	0.87760	.	.	ENSG00000137975	ENST00000370565	T	0.32515	1.45	5.66	4.74	0.60224	Domain of unknown function DUF1973 (1);	0.331572	0.31461	N	0.007601	T	0.49321	0.1550	M	0.87038	2.855	0.42258	D	0.992005	D	0.63880	0.993	D	0.63192	0.912	T	0.52177	-0.8610	10	0.44086	T	0.13	-21.3404	14.548	0.68047	0.0716:0.0:0.9284:0.0	.	542	Q9UQC9	CLCA2_HUMAN	N	542	ENSP00000359596:D542N	ENSP00000359596:D542N	D	+	1	0	CLCA2	86682193	0.987000	0.35691	0.953000	0.39169	0.882000	0.50991	2.515000	0.45512	2.673000	0.90976	0.650000	0.86243	GAT		0.398	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		7	118	0	0	0	0.001984	0	7	118				
LINGO4	339398	broad.mit.edu	37	1	151773644	151773644	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:151773644C>T	ENST00000368820.3	-	2	2474	c.1537G>A	c.(1537-1539)Gac>Aac	p.D513N	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	513						integral component of membrane (GO:0016021)		p.D513N(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATGTTGGGGTCAGAAAGTGTG	0.577																																							uc001ezf.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1537-1539)GAC>AAC		leucine rich repeat and Ig domain containing 4							174.0	176.0	175.0					1																	151773644		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151773644C>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1537G>A	1.37:g.151773644C>T	ENSP00000357810:p.Asp513Asn						p.D513N	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1727	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		513			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368820.3	37	c.1537G>A	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	C	8.265	0.812122	0.16537	.	.	ENSG00000213171	ENST00000368820	T	0.59638	0.25	5.35	4.44	0.53790	.	0.259259	0.27437	N	0.019378	T	0.16811	0.0404	N	0.08118	0	0.29803	N	0.832251	B	0.19073	0.033	B	0.15870	0.014	T	0.07947	-1.0746	10	0.31617	T	0.26	.	9.8638	0.41131	0.0:0.9085:0.0:0.0915	.	513	Q6UY18	LIGO4_HUMAN	N	513	ENSP00000357810:D513N	ENSP00000357810:D513N	D	-	1	0	LINGO4	150040268	0.243000	0.23878	0.996000	0.52242	0.560000	0.35617	0.626000	0.24492	1.492000	0.48499	-0.145000	0.13849	GAC		0.577	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		18	218	0	0	0	0.00499	0	18	218				
PAPPA2	60676	broad.mit.edu	37	1	176758977	176758977	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:176758977G>T	ENST00000367662.3	+	18	5912	c.4748G>T	c.(4747-4749)gGa>gTa	p.G1583V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1583	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G1583V(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGAAGGTGGAATCTGGGAG	0.463																																							uc001gkz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4747-4749)GGA>GTA		pappalysin 2 isoform 1							93.0	93.0	93.0					1																	176758977		1961	4145	6106	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176758977G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4748G>T	1.37:g.176758977G>T	ENSP00000356634:p.Gly1583Val					PAPPA2_uc009www.2_RNA	p.G1583V	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			18	5912	+			1583			Sushi 3.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4748G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415359	0.62511	.	.	ENSG00000116183	ENST00000367662	D	0.82893	-1.66	5.64	5.64	0.86602	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.91119	0.7204	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91858	0.5497	10	0.87932	D	0	-13.5779	16.6377	0.85063	0.0:0.0:1.0:0.0	.	1583	Q9BXP8	PAPP2_HUMAN	V	1583	ENSP00000356634:G1583V	ENSP00000356634:G1583V	G	+	2	0	PAPPA2	175025600	1.000000	0.71417	0.686000	0.30086	0.425000	0.31504	6.743000	0.74848	2.651000	0.90000	0.650000	0.86243	GGA		0.463	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			18	27	1	0	6.94344e-10	0.006122	9.28154e-10	18	27				
MARK1	4139	broad.mit.edu	37	1	220808734	220808734	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:220808734C>G	ENST00000366917.4	+	12	1405	c.1139C>G	c.(1138-1140)tCg>tGg	p.S380W	MARK1_ENST00000402574.1_Missense_Mutation_p.S245W|MARK1_ENST00000366918.4_Missense_Mutation_p.S358W					MAP/microtubule affinity-regulating kinase 1									p.S380W(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGTGGTGAATCGTTATCCAGT	0.403																																							uc001hmn.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(1138-1140)TCG>TGG		MAP/microtubule affinity-regulating kinase 1							74.0	72.0	73.0					1																	220808734		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220808734C>G	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1139C>G	1.37:g.220808734C>G	ENSP00000355884:p.Ser380Trp					MARK1_uc009xdw.2_Missense_Mutation_p.S380W|MARK1_uc010pun.1_Missense_Mutation_p.S380W|MARK1_uc001hmm.3_Missense_Mutation_p.S358W	p.S380W	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	12	1736	+			380						Missense_Mutation	SNP	ENST00000366917.4	37	c.1139C>G	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388776	0.82902	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.75477	-0.81;-0.61;-0.94	5.71	5.71	0.89125	.	0.125148	0.56097	D	0.000030	D	0.86239	0.5885	M	0.72894	2.215	0.80722	D	1	D;D;D;P	0.60160	0.987;0.984;0.987;0.913	D;D;D;D	0.74023	0.982;0.966;0.978;0.97	D	0.86504	0.1805	10	0.66056	D	0.02	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	380;245;380;358	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	W	245;358;380	ENSP00000386017:S245W;ENSP00000355885:S358W;ENSP00000355884:S380W	ENSP00000355884:S380W	S	+	2	0	MARK1	218875357	1.000000	0.71417	0.308000	0.25141	0.920000	0.55202	6.074000	0.71253	2.704000	0.92352	0.561000	0.74099	TCG		0.403	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			3	58	0	0	0	0.004672	0	3	58				
AKR1E2	83592	broad.mit.edu	37	10	4881968	4881968	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr10:4881968C>T	ENST00000298375.7	+	6	701	c.630C>T	c.(628-630)tgC>tgT	p.C210C	AKR1E2_ENST00000532248.1_Intron|AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Intron	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	210						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)	p.C210C(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TCAGTTTTTGCCAATCCAGAG	0.433																																					NSCLC(43;343 1097 20371 28813 45509)	NSCLC(43;343 1097 20371 28813 45509)	uc001ihi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(628-630)TGC>TGT		aldo-keto reductase family 1, member E2							218.0	179.0	193.0					10																	4881968		2203	4300	6503	SO:0001819	synonymous_variant	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4881968C>T	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.630C>T	10.37:g.4881968C>T						AKR1E2_uc001ihl.1_Intron|AKR1E2_uc010qam.1_Intron|AKR1E2_uc001ihh.1_Intron|AKR1E2_uc009xhw.2_Intron|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Intron	p.C210C	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN			6	745	+			210					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Silent	SNP	ENST00000298375.7	37	c.630C>T	CCDS31134.1																																																																																				0.433	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		4	111	0	0	0	0.000602	0	4	111				
ATRNL1	26033	broad.mit.edu	37	10	117486774	117486774	+	Missense_Mutation	SNP	G	G	T	rs547896775		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr10:117486774G>T	ENST00000355044.3	+	27	3938	c.3812G>T	c.(3811-3813)cGa>cTa	p.R1271L	ATRNL1_ENST00000423111.2_Missense_Mutation_p.R322L|ATRNL1_ENST00000303745.7_Missense_Mutation_p.R64L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1271					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R1271L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTTCGAGAACGACAGCAGATG	0.433																																							uc001lcg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3811-3813)CGA>CTA		attractin-like 1 precursor							51.0	49.0	50.0					10																	117486774		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117486774G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3812G>T	10.37:g.117486774G>T	ENSP00000347152:p.Arg1271Leu					ATRNL1_uc010qsm.1_Missense_Mutation_p.R400L|ATRNL1_uc010qsn.1_RNA	p.R1271L	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	27	4198	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1271			Cytoplasmic (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3812G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777793	0.49786	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.44482	0.92;0.92;0.92	5.77	5.77	0.91146	.	0.064388	0.56097	D	0.000033	T	0.49355	0.1552	N	0.17474	0.49	0.45541	D	0.998496	B;D	0.60160	0.276;0.987	B;D	0.67725	0.043;0.953	T	0.42396	-0.9454	10	0.29301	T	0.29	-8.6574	19.9795	0.97321	0.0:0.0:1.0:0.0	.	322;1271	B4DH41;Q5VV63	.;ATRN1_HUMAN	L	1271;322;64	ENSP00000347152:R1271L;ENSP00000409624:R322L;ENSP00000307660:R64L	ENSP00000307660:R64L	R	+	2	0	ATRNL1	117476764	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.720000	0.91442	2.720000	0.93068	0.650000	0.86243	CGA		0.433	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		7	48	1	0	0.000157383	0.00308	0.000200167	7	48				
HSPA12A	259217	broad.mit.edu	37	10	118460544	118460544	+	Silent	SNP	G	G	A	rs184358049	byFrequency	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr10:118460544G>A	ENST00000369209.3	-	4	455	c.351C>T	c.(349-351)gcC>gcT	p.A117A		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	117						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.A738A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AGTCCCTGGCGGCATACCCGA	0.567													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18690	0.0		0.0	False		,,,				2504	0.0						uc001lct.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(349-351)GCC>GCT		heat shock 70kDa protein 12A		G		1,4215		0,1,2107	80.0	87.0	84.0		351	-11.2	0.1	10		84	0,8462		0,0,4231	no	coding-synonymous	HSPA12A	NM_025015.2		0,1,6338	AA,AG,GG		0.0,0.0237,0.0079		117/676	118460544	1,12677	2108	4231	6339	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118460544G>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.351C>T	10.37:g.118460544G>A						HSPA12A_uc001lcu.2_Silent_p.A34A	p.A117A	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	4	456	-			117						Silent	SNP	ENST00000369209.3	37	c.351C>T	CCDS41569.1																																																																																				0.567	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		9	82	0	0	0	0.004482	0	9	82				
OR51Q1	390061	broad.mit.edu	37	11	5443439	5443439	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:5443439G>C	ENST00000300778.4	+	1	99	c.9G>C	c.(7-9)caG>caC	p.Q3H	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q3H(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGTCCCAGGTGACTAACA	0.448																																							uc010qzd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7-9)CAG>CAC		olfactory receptor, family 51, subfamily Q,							190.0	143.0	159.0					11																	5443439		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443439G>C	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.9G>C	11.37:g.5443439G>C	ENSP00000300778:p.Gln3His					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.Q3H	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	9	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	3			Extracellular (Potential).		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.9G>C	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	G	9.825	1.186881	0.21870	.	.	ENSG00000167360	ENST00000300778	T	0.00006	9.75	4.77	-2.9	0.05648	.	2.375910	0.01778	N	0.031583	T	0.00039	0.0001	N	0.02247	-0.625	0.09310	N	1	B	0.32753	0.383	B	0.34242	0.178	T	0.07986	-1.0744	10	0.15066	T	0.55	.	0.4212	0.00456	0.3136:0.1237:0.2022:0.3605	.	3	Q8NH59	O51Q1_HUMAN	H	3	ENSP00000300778:Q3H	ENSP00000300778:Q3H	Q	+	3	2	OR51Q1	5400015	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.929000	0.03976	-0.110000	0.12022	-1.009000	0.02473	CAG		0.448	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		16	115	0	0	0	0.004007	0	16	115				
OR5D13	390142	broad.mit.edu	37	11	55541387	55541387	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:55541387C>T	ENST00000361760.1	+	1	474	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S158S(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TAGTGTGCTCCCTGATACTCA	0.408																																							uc010ril.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(472-474)TCC>TCT		olfactory receptor, family 5, subfamily D,							178.0	175.0	176.0					11																	55541387		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541387C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.474C>T	11.37:g.55541387C>T							p.S158S	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	474	+		all_epithelial(135;0.196)	158			Helical; Name=4; (Potential).		Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.474C>T	CCDS31507.1																																																																																				0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		20	229	0	0	0	0.007413	0	20	229				
ZFP91	80829	broad.mit.edu	37	11	58381734	58381734	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:58381734G>C	ENST00000316059.6	+	9	1191	c.1020G>C	c.(1018-1020)aaG>aaC	p.K340N	AP001350.1_ENST00000601906.1_5'Flank|ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.K340N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	340	Interaction with MAP3K14/NIK.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.K340N(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGCTGAAGAAGAAATATGTAT	0.398																																							uc001nmx.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1018-1020)AAG>AAC		zinc finger protein 91							89.0	83.0	85.0					11																	58381734		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58381734G>C	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1020G>C	11.37:g.58381734G>C	ENSP00000339030:p.Lys340Asn					ZFP91_uc001nmy.3_Missense_Mutation_p.K339N|ZFP91-CNTF_uc010rkm.1_RNA	p.K340N	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN			9	1188	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	340			Interaction with MAP3K14/NIK.		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1020G>C	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169939	0.78452	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.14766	2.48	5.97	4.1	0.47936	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	L	0.58302	1.8	0.54753	D	0.999986	D;D	0.71674	0.998;0.997	D;P	0.66351	0.943;0.879	T	0.01337	-1.1381	10	0.87932	D	0	-20.8441	10.8807	0.46937	0.1554:0.0:0.8446:0.0	.	340;340	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	N	340	ENSP00000339030:K340N	ENSP00000374569:K340N	K	+	3	2	ZFP91	58138310	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.012000	0.49575	0.845000	0.35118	0.585000	0.79938	AAG		0.398	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		14	73	0	0	0	0.00245	0	14	73				
STIP1	10963	broad.mit.edu	37	11	63965325	63965325	+	Splice_Site	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:63965325G>C	ENST00000305218.4	+	8	1049		c.e8-1		STIP1_ENST00000538945.1_Splice_Site|STIP1_ENST00000358794.5_Splice_Site	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1						response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TTCTTTATCAGAGCATATGCT	0.463																																							uc001nyk.1		NA																	1	Unknown(1)		lung(1)	ovary(2)|liver(1)	3						c.e8-1		stress-induced-phosphoprotein 1							190.0	203.0	198.0					11																	63965325		2201	4297	6498	SO:0001630	splice_region_variant	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63965325G>C	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.903-1G>C	11.37:g.63965325G>C						STIP1_uc010rnb.1_Splice_Site_p.K277_splice	p.K301_splice	NM_006819	NP_006810	P31948	STIP1_HUMAN			8	1050	+								B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Splice_Site	SNP	ENST00000305218.4	37	c.903_splice	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	G	9.444	1.088945	0.20390	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.533	0.87819	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STIP1	63721901	1.000000	0.71417	0.972000	0.41901	0.039000	0.13416	8.989000	0.93506	2.520000	0.84964	0.467000	0.42956	.		0.463	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819	Intron	5	352	0	0	0	0.001168	0	5	352				
PANX1	24145	broad.mit.edu	37	11	93911638	93911638	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr11:93911638T>C	ENST00000227638.3	+	3	810	c.425T>C	c.(424-426)aTc>aCc	p.I142T	PANX1_ENST00000436171.2_Missense_Mutation_p.I142T	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	142					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)	p.I142T(1)		endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TTGAAGTTTATCATGGAAGAA	0.502																																							uc001per.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(424-426)ATC>ACC		pannexin 1							113.0	97.0	102.0					11																	93911638		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93911638T>C	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.425T>C	11.37:g.93911638T>C	ENSP00000227638:p.Ile142Thr					PANX1_uc001peq.2_Missense_Mutation_p.I142T	p.I142T	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN			3	810	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	142			Cytoplasmic (Potential).		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.425T>C	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583174	0.86748	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.32753	1.44;1.44	5.17	5.17	0.71159	.	0.045546	0.85682	D	0.000000	T	0.56673	0.2001	M	0.85197	2.74	0.58432	D	0.999995	D;D	0.71674	0.998;0.992	P;P	0.61070	0.883;0.813	T	0.65615	-0.6125	10	0.87932	D	0	-33.3693	15.0086	0.71533	0.0:0.0:0.0:1.0	.	142;142	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	T	142	ENSP00000227638:I142T;ENSP00000411461:I142T	ENSP00000227638:I142T	I	+	2	0	PANX1	93551286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.538000	0.82048	1.945000	0.56424	0.460000	0.39030	ATC		0.502	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		3	92	0	0	0	0.004672	0	3	92				
PYROXD1	79912	broad.mit.edu	37	12	21621467	21621467	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr12:21621467C>G	ENST00000240651.9	+	12	1336	c.1282C>G	c.(1282-1284)Cag>Gag	p.Q428E	PYROXD1_ENST00000538582.1_Missense_Mutation_p.Q357E	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	428							oxidoreductase activity (GO:0016491)	p.Q428E(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						ATACAATGCACAGGGCTTAGG	0.363																																							uc001rew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1282-1284)CAG>GAG		pyridine nucleotide-disulphide oxidoreductase							70.0	71.0	71.0					12																	21621467		2203	4299	6502	SO:0001583	missense	79912						oxidoreductase activity	g.chr12:21621467C>G	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.1282C>G	12.37:g.21621467C>G	ENSP00000240651:p.Gln428Glu					PYROXD1_uc009ziq.2_Missense_Mutation_p.Q169E|PYROXD1_uc009zir.2_Missense_Mutation_p.Q134E	p.Q428E	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN			12	1409	+			428					A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	ENST00000240651.9	37	c.1282C>G	CCDS31755.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495643	0.85069	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.69931	0.3166	M	0.70275	2.135	0.80722	D	1	D	0.56746	0.977	P	0.54401	0.751	T	0.66948	-0.5794	9	0.07813	T	0.8	.	17.7046	0.88305	0.0:1.0:0.0:0.0	.	428	Q8WU10	PYRD1_HUMAN	E	134;428;357	.	ENSP00000240651:Q428E	Q	+	1	0	PYROXD1	21512734	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.540000	0.82074	2.477000	0.83638	0.563000	0.77884	CAG		0.363	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854		9	59	0	0	0	0.008291	0	9	59				
TFCP2	7024	broad.mit.edu	37	12	51497949	51497949	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr12:51497949G>C	ENST00000257915.5	-	9	1413	c.955C>G	c.(955-957)Cca>Gca	p.P319A	TFCP2_ENST00000307660.4_Missense_Mutation_p.P268A|TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000548115.1_Missense_Mutation_p.P268A	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	319	DNA-binding.|Poly-Pro.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P319A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TCTGTGACTGGAGGGGGTGGC	0.408																																							uc001rxw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(955-957)CCA>GCA		transcription factor CP2							131.0	124.0	126.0					12																	51497949		2203	4300	6503	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51497949G>C	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.955C>G	12.37:g.51497949G>C	ENSP00000257915:p.Pro319Ala					TFCP2_uc001rxv.1_Missense_Mutation_p.P319A|TFCP2_uc009zlx.1_Missense_Mutation_p.P268A|TFCP2_uc001rxx.2_Intron|TFCP2_uc009zly.1_Missense_Mutation_p.P221A	p.P319A	NM_005653	NP_005644	Q12800	TFCP2_HUMAN			9	1414	-			319			Poly-Pro.|DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.955C>G	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	G	9.659	1.143654	0.21205	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000548115;ENST00000548108	T;T;T;T	0.43688	2.3;0.95;0.94;2.3	4.46	4.46	0.54185	Sterile alpha motif/pointed domain (1);	0.111165	0.64402	D	0.000008	T	0.34745	0.0908	L	0.40543	1.245	0.51482	D	0.999925	B;B;B	0.21905	0.062;0.017;0.001	B;B;B	0.28638	0.092;0.028;0.009	T	0.10474	-1.0628	10	0.07325	T	0.83	-13.3202	17.075	0.86584	0.0:0.0:1.0:0.0	.	268;319;319	Q12800-2;Q12800;Q12800-4	.;TFCP2_HUMAN;.	A	319;268;268;221	ENSP00000257915:P319A;ENSP00000304411:P268A;ENSP00000447991:P268A;ENSP00000449280:P221A	ENSP00000257915:P319A	P	-	1	0	TFCP2	49784216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.947000	0.75959	2.754000	0.94517	0.655000	0.94253	CCA		0.408	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		6	59	0	0	0	0.00308	0	6	59				
RPS26	6231	broad.mit.edu	37	12	56436228	56436228	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr12:56436228A>G	ENST00000356464.5	+	2	337	c.23A>G	c.(22-24)aAt>aGt	p.N8S	RPS26_ENST00000552361.1_Missense_Mutation_p.N8S|RP11-603J24.4_ENST00000551846.1_RNA			P62854	RS26_HUMAN	ribosomal protein S26	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.N8S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGAAGGAACAATGGTCGTGCC	0.552																																							uc001sjf.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(22-24)AAT>AGT		ribosomal protein S26							49.0	45.0	46.0					12																	56436228		2203	4300	6503	SO:0001583	missense	6231				endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome	g.chr12:56436228A>G	AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"""S ribosomal proteins"""	10414	protein-coding gene	gene with protein product	"""40S ribosomal protein S26"""	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.23A>G	12.37:g.56436228A>G	ENSP00000348849:p.Asn8Ser						p.N8S	NM_001029	NP_001020	P62854	RS26_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		2	288	+			8					P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Missense_Mutation	SNP	ENST00000356464.5	37	c.23A>G	CCDS31832.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.287908	0.40494	.	.	ENSG00000197728	ENST00000356464;ENST00000552361	D;D	0.90261	-2.64;-2.64	4.7	3.55	0.40652	.	0.000000	0.85682	U	0.000000	D	0.89441	0.6716	M	0.81682	2.555	0.42659	D	0.993479	B	0.06786	0.001	B	0.01281	0.0	D	0.86425	0.1757	10	0.62326	D	0.03	-0.0343	9.5673	0.39407	0.9144:0.0:0.0856:0.0	.	8	P62854	RS26_HUMAN	S	8	ENSP00000348849:N8S;ENSP00000450339:N8S	ENSP00000348849:N8S	N	+	2	0	RPS26	54722495	1.000000	0.71417	0.716000	0.30569	0.372000	0.29890	8.719000	0.91436	0.931000	0.37242	-0.371000	0.07208	AAT		0.552	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407616.1	NM_001029		11	53	0	0	0	0.013537	0	11	53				
PITPNM2	57605	broad.mit.edu	37	12	123497231	123497231	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr12:123497231T>A	ENST00000542749.1	-	3	407	c.344A>T	c.(343-345)tAt>tTt	p.Y115F	PITPNM2_ENST00000320201.4_Missense_Mutation_p.Y115F|PITPNM2_ENST00000546049.1_Missense_Mutation_p.Y115F|PITPNM2_ENST00000392428.1_Intron|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000280562.5_Missense_Mutation_p.Y115F			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	115					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.Y115F(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ATCAGTTTTATAAAAGGTTTC	0.512																																							uc001uej.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(343-345)TAT>TTT		phosphatidylinositol transfer protein,							153.0	165.0	161.0					12																	123497231		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123497231T>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.344A>T	12.37:g.123497231T>A	ENSP00000437611:p.Tyr115Phe					PITPNM2_uc001uek.1_Missense_Mutation_p.Y115F|PITPNM2_uc009zxu.1_Missense_Mutation_p.Y115F|hsa-mir-4304|MI0015832_5'Flank	p.Y115F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	4	483	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		115					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.344A>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	T	34	5.374316	0.95923	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.48201	0.82;0.82;0.82	5.35	5.35	0.76521	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64294	0.2585	L	0.54965	1.715	0.80722	D	1	P;P;D	0.76494	0.84;0.569;0.999	P;P;D	0.83275	0.823;0.803;0.996	T	0.64584	-0.6373	10	0.48119	T	0.1	-11.9847	15.6315	0.76912	0.0:0.0:0.0:1.0	.	115;115;115	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	F	115	ENSP00000280562:Y115F;ENSP00000322218:Y115F;ENSP00000437611:Y115F	ENSP00000280562:Y115F	Y	-	2	0	PITPNM2	122063184	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.040000	0.89188	2.151000	0.67156	0.528000	0.53228	TAT		0.512	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		42	211	0	0	0	0.011902	0	42	211				
OR4Q3	441669	broad.mit.edu	37	14	20215725	20215725	+	Missense_Mutation	SNP	G	G	T	rs377420174		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr14:20215725G>T	ENST00000331723.1	+	1	139	c.139G>T	c.(139-141)Gta>Tta	p.V47L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V47L(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGATAGTGGTAACAGTGCA	0.418																																							uc010tkt.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(139-141)GTA>TTA		olfactory receptor, family 4, subfamily Q,							209.0	211.0	211.0					14																	20215725		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215725G>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.139G>T	14.37:g.20215725G>T	ENSP00000330049:p.Val47Leu						p.V47L	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	139	+	all_cancers(95;0.00108)		47			Helical; Name=1; (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.139G>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	0.516	-0.864425	0.02590	.	.	ENSG00000182652	ENST00000331723	T	0.00569	6.52	4.32	-1.1	0.09872	GPCR, rhodopsin-like superfamily (1);	0.245550	0.21048	U	0.081053	T	0.00241	0.0007	N	0.04203	-0.255	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.41413	-0.9510	10	0.20519	T	0.43	.	2.2086	0.03942	0.191:0.3995:0.2686:0.1409	.	47	Q8NH05	OR4Q3_HUMAN	L	47	ENSP00000330049:V47L	ENSP00000330049:V47L	V	+	1	0	OR4Q3	19285565	0.000000	0.05858	0.517000	0.27799	0.130000	0.20726	-0.803000	0.04540	0.113000	0.18004	-0.360000	0.07572	GTA		0.418	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			24	501	1	0	6.32553e-13	0.004656	8.54273e-13	24	501				
RNF31	55072	broad.mit.edu	37	14	24621036	24621036	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr14:24621036C>T	ENST00000324103.6	+	11	2285	c.1965C>T	c.(1963-1965)agC>agT	p.S655S	RNF31_ENST00000559275.1_Silent_p.S504S|RP11-468E2.4_ENST00000558468.1_Silent_p.S130S|RNF31_ENST00000382687.3_Silent_p.S504S	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	655					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S655S(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CACTCCCCAGCTGGGGCCGGG	0.617																																							uc001wmn.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1963-1965)AGC>AGT		ring finger protein 31							61.0	68.0	66.0					14																	24621036		1959	4153	6112	SO:0001819	synonymous_variant	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24621036C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1965C>T	14.37:g.24621036C>T						RNF31_uc001wml.1_Silent_p.S504S|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_Silent_p.S414S|RNF31_uc001wmo.1_Silent_p.S122S|RNF31_uc001wmp.2_RNA	p.S655S	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	11	2214	+			655					A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	c.1965C>T	CCDS41931.1																																																																																				0.617	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		17	112	0	0	0	0.007413	0	17	112				
NRDE2	55051	broad.mit.edu	37	14	90764706	90764706	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr14:90764706A>G	ENST00000354366.3	-	8	1796	c.1564T>C	c.(1564-1566)Ttt>Ctt	p.F522L	NRDE2_ENST00000357904.3_Missense_Mutation_p.F291L	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	522								p.F522L(1)									CTGTCCCAAAAGGGTTCAAAG	0.547																																							uc001xyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1564-1566)TTT>CTT		hypothetical protein LOC55051 isoform 1							52.0	54.0	53.0					14																	90764706		2203	4300	6503	SO:0001583	missense	55051						protein binding	g.chr14:90764706A>G	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1564T>C	14.37:g.90764706A>G	ENSP00000346335:p.Phe522Leu					C14orf102_uc010atp.1_Missense_Mutation_p.F27L|C14orf102_uc001xyj.1_Missense_Mutation_p.F291L	p.F522L	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	8	1595	-		all_cancers(154;0.118)	522					B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.1564T>C	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	A	35	5.489812	0.96339	.	.	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.27402	1.67;1.67	5.8	5.8	0.92144	Domain of unknown function DUF1740 (1);	0.061173	0.64402	D	0.000003	T	0.49490	0.1560	M	0.81802	2.56	0.80722	D	1	D	0.54047	0.964	P	0.51079	0.658	T	0.56715	-0.7933	10	0.72032	D	0.01	-13.3425	16.1382	0.81506	1.0:0.0:0.0:0.0	.	522	Q9H7Z3	CN102_HUMAN	L	522;291;101	ENSP00000346335:F522L;ENSP00000350579:F291L	ENSP00000346335:F522L	F	-	1	0	C14orf102	89834459	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.930000	0.92872	2.212000	0.71576	0.374000	0.22700	TTT		0.547	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		4	90	0	0	0	0.000602	0	4	90				
ZSCAN29	146050	broad.mit.edu	37	15	43658995	43658995	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr15:43658995G>A	ENST00000396976.2	-	3	669	c.535C>T	c.(535-537)Cct>Tct	p.P179S	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.P178S	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	179					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P179S(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCGGATTTAGGAAATGGCAAT	0.458																																							uc001zrk.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(535-537)CCT>TCT		zinc finger protein 690							55.0	56.0	56.0					15																	43658995		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43658995G>A	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.535C>T	15.37:g.43658995G>A	ENSP00000380174:p.Pro179Ser					ZSCAN29_uc001zrj.1_Missense_Mutation_p.P59S|ZSCAN29_uc010bdf.1_Missense_Mutation_p.P178S|ZSCAN29_uc001zrl.1_Intron|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Missense_Mutation_p.P178S	p.P179S	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	682	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	179					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.535C>T	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	G	5.800	0.331886	0.10956	.	.	ENSG00000140265	ENST00000396976	T	0.07688	3.17	4.79	2.91	0.33838	.	0.384596	0.22594	N	0.058057	T	0.04452	0.0122	N	0.17082	0.46	0.80722	D	1	B;B;B	0.17667	0.002;0.023;0.001	B;B;B	0.17098	0.002;0.017;0.002	T	0.30149	-0.9988	10	0.07325	T	0.83	-0.138	9.142	0.36910	0.1792:0.0:0.8208:0.0	.	178;179;179	C9K0J8;Q8IWY8-3;Q8IWY8	.;.;ZSC29_HUMAN	S	179	ENSP00000380174:P179S	ENSP00000380174:P179S	P	-	1	0	ZSCAN29	41446287	0.001000	0.12720	1.000000	0.80357	0.930000	0.56654	-0.355000	0.07671	0.739000	0.32628	0.655000	0.94253	CCT		0.458	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		17	58	0	0	0	0.00499	0	17	58				
SLC24A1	9187	broad.mit.edu	37	15	65917985	65917985	+	Missense_Mutation	SNP	G	G	A	rs369970909		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr15:65917985G>A	ENST00000261892.6	+	2	1854	c.1567G>A	c.(1567-1569)Gtg>Atg	p.V523M	SLC24A1_ENST00000339868.6_Missense_Mutation_p.V523M|SLC24A1_ENST00000544319.2_Missense_Mutation_p.V523M|SLC24A1_ENST00000537259.1_Missense_Mutation_p.V523M|SLC24A1_ENST00000399033.4_Missense_Mutation_p.V523M|SLC24A1_ENST00000546330.1_Missense_Mutation_p.V523M	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	523					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.V523M(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCACAGCAACGTGGGCATTGG	0.547																																							uc010ujf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1567-1569)GTG>ATG		solute carrier family 24		G	MET/VAL	0,4320		0,0,2160	261.0	273.0	269.0		1567	5.4	1.0	15		269	1,8535		0,1,4267	no	missense	SLC24A1	NM_004727.2	21	0,1,6427	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging	523/1100	65917985	1,12855	2160	4268	6428	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65917985G>A	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1567G>A	15.37:g.65917985G>A	ENSP00000261892:p.Val523Met					SLC24A1_uc010ujd.1_Missense_Mutation_p.V523M|SLC24A1_uc010uje.1_Missense_Mutation_p.V523M|SLC24A1_uc010ujg.1_Missense_Mutation_p.V523M|SLC24A1_uc010ujh.1_Missense_Mutation_p.V523M	p.V523M	NM_004727	NP_004718	O60721	NCKX1_HUMAN			2	1854	+			523			Alpha-1.|Helical; (Potential).		O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.1567G>A	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882045	0.91740	0.0	1.17E-4	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.39	5.39	0.77823	Sodium/calcium exchanger membrane region (1);	0.000000	0.64402	D	0.000001	T	0.76364	0.3977	L	0.55743	1.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	T	0.76239	-0.3032	10	0.56958	D	0.05	.	18.3245	0.90248	0.0:0.0:1.0:0.0	.	523;523;523;523;523	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	M	523	ENSP00000439693:V523M;ENSP00000261892:V523M;ENSP00000341837:V523M;ENSP00000445163:V523M;ENSP00000381991:V523M;ENSP00000439190:V523M	ENSP00000261892:V523M	V	+	1	0	SLC24A1	63705039	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.732000	0.84908	2.808000	0.96608	0.561000	0.74099	GTG		0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		5	163	0	0	0	0.000602	0	5	163				
EFTUD1	79631	broad.mit.edu	37	15	82532838	82532838	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr15:82532838T>C	ENST00000268206.7	-	6	605	c.437A>G	c.(436-438)aAt>aGt	p.N146S	EFTUD1_ENST00000359445.3_Missense_Mutation_p.N95S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	146	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.N146S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATCAATCTTATTAATCACTAA	0.348																																							uc002bgt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)AAT>AGT		elongation factor Tu GTP binding domain							61.0	56.0	57.0					15																	82532838		1817	4083	5900	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82532838T>C	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.437A>G	15.37:g.82532838T>C	ENSP00000268206:p.Asn146Ser					EFTUD1_uc002bgu.1_Missense_Mutation_p.N95S	p.N146S	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			6	606	-			146			GTP (By similarity).		A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.437A>G	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213335	0.79352	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	D;D	0.94457	-3.43;-3.43	4.01	4.01	0.46588	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.000000	0.56097	U	0.000035	D	0.97714	0.9250	H	0.94698	3.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.973;0.984	D	0.98438	1.0585	10	0.87932	D	0	-2.4104	12.5358	0.56140	0.0:0.0:0.0:1.0	.	95;146	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	S	146;95	ENSP00000268206:N146S;ENSP00000352418:N95S	ENSP00000268206:N146S	N	-	2	0	EFTUD1	80319893	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.380000	0.79704	1.804000	0.52760	0.438000	0.28831	AAT		0.348	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		14	26	0	0	0	0.00245	0	14	26				
SEC14L5	9717	broad.mit.edu	37	16	5064922	5064922	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:5064922C>T	ENST00000251170.7	+	16	2222	c.2042C>T	c.(2041-2043)tCg>tTg	p.S681L	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	681	Ser-rich.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.S681L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCCGCCACCTCGTCCTCCTCC	0.652																																							uc002cye.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2041-2043)TCG>TTG		SEC14-like 5							46.0	53.0	50.0					16																	5064922		2158	4270	6428	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5064922C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.2042C>T	16.37:g.5064922C>T	ENSP00000251170:p.Ser681Leu						p.S681L	NM_014692	NP_055507	O43304	S14L5_HUMAN			16	2222	+			681			Ser-rich.			Missense_Mutation	SNP	ENST00000251170.7	37	c.2042C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491473	0.26774	.	.	ENSG00000103184	ENST00000251170	T	0.70399	-0.48	4.66	2.64	0.31445	.	0.996520	0.08125	N	0.994169	T	0.48259	0.1490	N	0.08118	0	0.27486	N	0.952444	B	0.24882	0.113	B	0.14578	0.011	T	0.43228	-0.9404	10	0.66056	D	0.02	-11.8963	4.9691	0.14105	0.1447:0.6139:0.1611:0.0804	.	681	O43304	S14L5_HUMAN	L	681	ENSP00000251170:S681L	ENSP00000251170:S681L	S	+	2	0	SEC14L5	5004923	0.765000	0.28485	0.305000	0.25099	0.009000	0.06853	3.424000	0.52764	0.649000	0.30751	0.655000	0.94253	TCG		0.652	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			7	81	0	0	0	0.004482	0	7	81				
ABCC1	4363	broad.mit.edu	37	16	16215937	16215937	+	Nonsense_Mutation	SNP	C	C	T	rs368794890		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:16215937C>T	ENST00000399410.3	+	24	3671	c.3496C>T	c.(3496-3498)Cga>Tga	p.R1166*	ABCC1_ENST00000346370.5_Nonsense_Mutation_p.R1110*|ABCC1_ENST00000351154.5_Nonsense_Mutation_p.R1107*|ABCC1_ENST00000399408.2_Nonsense_Mutation_p.R1176*|ABCC1_ENST00000349029.5_Nonsense_Mutation_p.R1051*|ABCC1_ENST00000345148.5_Nonsense_Mutation_p.R1166*	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1166	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R1166*(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CAGCGTCATTCGAGCCTTCGA	0.612																																							uc010bvi.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(3496-3498)CGA>TGA		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	C	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4370		0,0,2185	53.0	59.0	57.0		3496,3319,3328,3151,3496	5.4	1.0	16		57	1,8587	1.2+/-3.3	0,1,4293	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	,,,,	0,1,6478	TT,TC,CC		0.0116,0.0,0.0077	,,,,	1166/1532,1107/1473,1110/1476,1051/1417,1166/1467	16215937	1,12957	2185	4294	6479	SO:0001587	stop_gained	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16215937C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3496C>T	16.37:g.16215937C>T	ENSP00000382342:p.Arg1166*					ABCC1_uc010bvj.2_Nonsense_Mutation_p.R1107*|ABCC1_uc010bvk.2_Nonsense_Mutation_p.R1110*|ABCC1_uc010bvl.2_Nonsense_Mutation_p.R1166*|ABCC1_uc010bvm.2_Nonsense_Mutation_p.R1051*|ABCC1_uc002del.3_Nonsense_Mutation_p.R1060*	p.R1166*	NM_004996	NP_004987	P33527	MRP1_HUMAN			24	3671	+			1166			Cytoplasmic.|ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Nonsense_Mutation	SNP	ENST00000399410.3	37	c.3496C>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	41	8.728834	0.98931	0.0	1.16E-4	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6923	18.0777	0.89432	0.0:1.0:0.0:0.0	.	.	.	.	X	1166;1176;1110;1107;1166;1051;850	.	ENSP00000263014:R1166X	R	+	1	2	ABCC1	16123438	1.000000	0.71417	0.997000	0.53966	0.460000	0.32559	3.837000	0.55820	2.509000	0.84616	0.561000	0.74099	CGA		0.612	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		4	81	0	0	0	0.009096	0	4	81				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																							uc010vbl.1		NA																	0					0						c.(106-108)CTG>TTG		SubName: Full=Putative uncharacterized protein ENSP00000219758;																																						730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A						uc002diq.3_Intron	p.L36L	NR_003370						7	603	-								A8K6T4|B3KWX9|O75704	Silent	SNP	ENST00000546471.1	37	c.106C>T																																																																																					0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		4	23	0	0	0	0.009096	0	4	23				
RRN3P1	730092	broad.mit.edu	37	16	21817525	21817525	+	RNA	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:21817525C>T	ENST00000546471.1	-	0	1533							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		TACACTAATCCTTAGTAAGTT	0.284																																							uc010vbl.1		NA																	0					0						c.(37-39)AGG>AAG		SubName: Full=Putative uncharacterized protein ENSP00000219758;																																						730092							g.chr16:21817525C>T			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817525C>T						uc002diq.3_Intron	p.R13K	NR_003370						7	535	-								A8K6T4|B3KWX9|O75704	Missense_Mutation	SNP	ENST00000546471.1	37	c.38G>A																																																																																					0.284	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		3	18	0	0	0	0.000602	0	3	18				
SETD6	79918	broad.mit.edu	37	16	58550737	58550737	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:58550737G>C	ENST00000219315.4	+	5	747	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000394266.4_Missense_Mutation_p.E164Q|SETD6_ENST00000310682.2_Missense_Mutation_p.E209Q			Q8TBK2	SETD6_HUMAN	SET domain containing 6	233	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)	p.E209Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GGAGGAAGAAGAGGATGAAAA	0.517																																							uc002ens.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(697-699)GAG>CAG		SET domain containing 6 isoform a							161.0	163.0	163.0					16																	58550737		2198	4300	6498	SO:0001583	missense	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58550737G>C	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.697G>C	16.37:g.58550737G>C	ENSP00000219315:p.Glu233Gln					SETD6_uc010cdl.2_Missense_Mutation_p.E233Q|SETD6_uc002enr.2_Missense_Mutation_p.E209Q|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Missense_Mutation_p.E157Q	p.E233Q	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN			5	756	+			233			SET.		A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	c.697G>C	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761859	0.89932	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	D;D;D	0.82344	-1.6;-1.6;-1.6	5.42	5.42	0.78866	SET domain (2);	0.237972	0.41294	D	0.000903	D	0.89382	0.6699	M	0.84683	2.71	0.47819	D	0.99952	D;P;P	0.56746	0.977;0.921;0.867	P;P;P	0.54856	0.762;0.709;0.698	D	0.87596	0.2494	10	0.21540	T	0.41	-15.2609	18.2026	0.89843	0.0:0.0:1.0:0.0	.	209;233;209	E9PC53;Q8TBK2;Q8TBK2-2	.;SETD6_HUMAN;.	Q	209;164;233	ENSP00000310082:E209Q;ENSP00000377809:E164Q;ENSP00000219315:E233Q	ENSP00000219315:E233Q	E	+	1	0	SETD6	57108238	1.000000	0.71417	0.997000	0.53966	0.695000	0.40330	9.177000	0.94849	2.531000	0.85337	0.491000	0.48974	GAG		0.517	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		9	210	0	0	0	0.006214	0	9	210				
ZFHX3	463	broad.mit.edu	37	16	72991714	72991714	+	Silent	SNP	C	C	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr16:72991714C>A	ENST00000268489.5	-	2	3003	c.2331G>T	c.(2329-2331)gtG>gtT	p.V777V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ccgccgcagccaccgccgccg	0.637																																							uc002fck.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(2329-2331)GTG>GTT		zinc finger homeobox 3 isoform A							11.0	19.0	16.0					16																	72991714		1956	3841	5797	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991714C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2331G>T	16.37:g.72991714C>A						ZFHX3_uc002fcl.2_Intron	p.V777V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	3004	-		Ovarian(137;0.13)	777			Poly-Ala.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.2331G>T	CCDS10908.1																																																																																				0.637	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		5	51	1	0	3.59834e-05	0.001168	4.66715e-05	5	51				
SLC16A13	201232	broad.mit.edu	37	17	6941599	6941599	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:6941599T>C	ENST00000308027.6	+	3	780	c.472T>C	c.(472-474)Ttt>Ctt	p.F158L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	158						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.F158L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTGCCCCCTTTTTCCAGTG	0.652																																							uc002geh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(472-474)TTT>CTT		monocarboxylate transporter 13							62.0	66.0	64.0					17																	6941599		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941599T>C	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.472T>C	17.37:g.6941599T>C	ENSP00000309751:p.Phe158Leu						p.F158L	NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN			3	780	+			158			Helical; (Potential).		A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.472T>C	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	4.647	0.120233	0.08881	.	.	ENSG00000174327	ENST00000308027	T	0.48522	0.81	5.54	-1.46	0.08800	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.192516	0.46442	N	0.000288	T	0.13713	0.0332	N	0.01202	-0.96	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.38001	-0.9681	10	0.02654	T	1	.	10.4076	0.44274	0.0:0.5248:0.0:0.4752	.	158	Q7RTY0	MOT13_HUMAN	L	158	ENSP00000309751:F158L	ENSP00000309751:F158L	F	+	1	0	SLC16A13	6882323	0.479000	0.25925	0.535000	0.28026	0.981000	0.71138	1.161000	0.31773	-0.053000	0.13289	-0.313000	0.08912	TTT		0.652	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			3	74	0	0	0	0.004672	0	3	74				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM951226	TP53	M		c.(637-639)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	p.R213*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	831	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	16	0	0	0	0.008871	0	18	16				
DNAH2	146754	broad.mit.edu	37	17	7643738	7643738	+	Splice_Site	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:7643738G>T	ENST00000572933.1	+	10	2837	c.1377G>T	c.(1375-1377)aaG>aaT	p.K459N	DNAH2_ENST00000389173.2_Splice_Site_p.K459N|DNAH2_ENST00000570791.1_Splice_Site_p.K541N|DNAH2_ENST00000082259.3_Splice_Site_p.K541N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	459	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K459N(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCGGTGCAGGTTCCGTGCCG	0.622																																							uc002giu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(1375-1377)AAG>AAT		dynein heavy chain domain 3							133.0	115.0	121.0					17																	7643738		2203	4300	6503	SO:0001630	splice_region_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7643738G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1377-1G>T	17.37:g.7643738G>T						DNAH2_uc002git.2_Missense_Mutation_p.K541N|DNAH2_uc010vuk.1_Missense_Mutation_p.K459N	p.K459N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			9	1391	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	459			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1377G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008882	0.54361	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.56103	0.48;0.48	4.18	-6.13	0.02118	Dynein heavy chain, domain-1 (1);	0.368082	0.25247	N	0.032056	T	0.34629	0.0904	L	0.52573	1.65	0.80722	D	1	B;P	0.43412	0.154;0.806	B;B	0.41271	0.248;0.352	T	0.31779	-0.9931	9	.	.	.	.	3.5521	0.07850	0.52:0.1062:0.2668:0.107	.	459;541	Q9P225;Q9P225-3	DYH2_HUMAN;.	N	459;459;541	ENSP00000373825:K459N;ENSP00000082259:K541N	.	K	+	3	2	DNAH2	7584463	0.956000	0.32656	0.620000	0.29132	0.716000	0.41182	-0.022000	0.12480	-1.107000	0.03004	-0.396000	0.06452	AAG		0.622	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Missense_Mutation	25	123	1	0	1.96895e-08	0.00278	2.57932e-08	25	123				
MYH4	4622	broad.mit.edu	37	17	10352023	10352023	+	Silent	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:10352023G>C	ENST00000255381.2	-	32	4553	c.4443C>G	c.(4441-4443)ctC>ctG	p.L1481L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1481					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.L1481L(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCAGTGCTGAGAGAACGCG	0.453																																							uc002gmn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4441-4443)CTC>CTG		myosin, heavy polypeptide 4, skeletal muscle							97.0	98.0	97.0					17																	10352023		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352023G>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4443C>G	17.37:g.10352023G>C						uc002gml.1_Intron	p.L1481L	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			32	4554	-			1481			Potential.			Silent	SNP	ENST00000255381.2	37	c.4443C>G	CCDS11154.1																																																																																				0.453	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		7	112	0	0	0	0.00308	0	7	112				
CACNA1G	8913	broad.mit.edu	37	17	48678500	48678500	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:48678500G>A	ENST00000359106.5	+	19	3880	c.3880G>A	c.(3880-3882)Gcc>Acc	p.A1294T	CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1294T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1271T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1271T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1271T|CACNA1G_ENST00000352832.5_Missense_Mutation_p.A1271T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1271T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1271T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1294T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1294T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1271T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1271T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A1294T|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1294T	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1294					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.A1294T(3)|p.A1271T(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCACCATCGCCATGGAGCG	0.592																																							uc002irk.1		NA																	4	Substitution - Missense(4)		lung(4)	breast(1)	1						c.(3880-3882)GCC>ACC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						89.0	88.0	89.0					17																	48678500		2105	4215	6320	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48678500G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3880G>A	17.37:g.48678500G>A	ENSP00000352011:p.Ala1294Thr					CACNA1G_uc002iri.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irj.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irl.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irm.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irn.1_Missense_Mutation_p.A1271T|CACNA1G_uc002iro.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irp.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irq.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irr.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irs.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irt.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irv.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irw.1_Missense_Mutation_p.A1271T|CACNA1G_uc002iru.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irx.1_Missense_Mutation_p.A1207T|CACNA1G_uc002iry.1_Missense_Mutation_p.A1207T|CACNA1G_uc002irz.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isa.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isb.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isc.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isd.1_Missense_Mutation_p.A1207T|CACNA1G_uc002ise.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isf.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isg.1_Missense_Mutation_p.A1207T|CACNA1G_uc002ish.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isi.1_Missense_Mutation_p.A1184T|CACNA1G_uc002isj.2_Missense_Mutation_p.A18T	p.A1294T	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		19	4252	+	Breast(11;6.7e-17)		1294			III.|Helical; Name=S1 of repeat III; (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3880G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	35	5.477648	0.96291	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.99;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.994;1.0	D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.992;1.0;0.996;0.993;0.999;0.995;0.817;0.999;0.993;1.0;0.999;1.0;0.978;0.999;0.996;1.0;0.999;0.997;0.999;0.999;0.991;0.999;0.999;0.995;0.919;0.999	D	0.99804	1.1037	10	0.87932	D	0	.	18.335	0.90285	0.0:0.0:1.0:0.0	.	324;1271;1294;1294;1294;1294;1294;1294;1294;1294;1294;1294;1271;1294;1294;1294;1294;1294;1271;1294;1271;1271;1271;1271;1294;1271;1294	B4DKD3;Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	T	1271;1271;1294;1271;1271;1271;1294;1294;1271;1294;1294;1294;1294;1294;1294;1271;1294;1294;1294;1294;1271;1294;1294;1294;1294;1294;109	ENSP00000353990:A1271T;ENSP00000339302:A1271T;ENSP00000392390:A1294T;ENSP00000347078:A1271T;ENSP00000409759:A1271T;ENSP00000425522:A1271T;ENSP00000426261:A1294T;ENSP00000425451:A1294T;ENSP00000422407:A1271T;ENSP00000426814:A1294T;ENSP00000427238:A1294T;ENSP00000423112:A1294T;ENSP00000420918:A1294T;ENSP00000426172:A1294T;ENSP00000423045:A1294T;ENSP00000427173:A1271T;ENSP00000426098:A1294T;ENSP00000425698:A1294T;ENSP00000426232:A1294T;ENSP00000423317:A1294T;ENSP00000350979:A1271T;ENSP00000352011:A1294T;ENSP00000414388:A1294T;ENSP00000423155:A1294T;ENSP00000422268:A1294T;ENSP00000421518:A1294T;ENSP00000427697:A109T	ENSP00000339302:A1271T	A	+	1	0	CACNA1G	46033499	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.866000	0.99616	2.409000	0.81822	0.655000	0.94253	GCC		0.592	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		6	62	0	0	0	0.001168	0	6	62				
ARL16	339231	broad.mit.edu	37	17	79650121	79650121	+	Silent	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr17:79650121T>C	ENST00000397498.4	-	3	326	c.228A>G	c.(226-228)agA>agG	p.R76R	ARL16_ENST00000573392.1_Intron|ARL16_ENST00000574938.1_Intron|ARL16_ENST00000570561.1_5'UTR|ARL16_ENST00000576135.1_5'UTR|HGS_ENST00000329138.4_5'Flank	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	76					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.R76R(1)		central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGTGATCTTTCTCTGTGCCA	0.507																																							uc002kbf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(226-228)AGA>AGG		ADP-ribosylation factor-like 16							156.0	167.0	164.0					17																	79650121		1956	4144	6100	SO:0001819	synonymous_variant	339231						GTP binding	g.chr17:79650121T>C		CCDS45813.1	17q25.3	2014-05-09				ENSG00000214087		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	27902	protein-coding gene	gene with protein product						12477932	Standard	NM_001040025		Approved		uc002kbf.3	Q0P5N6		ENST00000397498.4:c.228A>G	17.37:g.79650121T>C						ARL16_uc002kbe.2_5'UTR|HGS_uc010wus.1_5'Flank|HGS_uc002kbg.2_5'Flank	p.R76R	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		3	327	-	all_neural(118;0.0878)|all_lung(278;0.23)		76						Silent	SNP	ENST00000397498.4	37	c.228A>G	CCDS45813.1																																																																																				0.507	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440514.1	XM_290777		5	213	0	0	0	0.000602	0	5	213				
AFG3L2	10939	broad.mit.edu	37	18	12367060	12367060	+	Silent	SNP	C	C	T	rs146182382		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr18:12367060C>T	ENST00000269143.3	-	5	687	c.456G>A	c.(454-456)ctG>ctA	p.L152L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	152					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.L152L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CACCCCAGAACAGAGCAGTCC	0.458																																							uc002kqz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(454-456)CTG>CTA		AFG3 ATPase family gene 3-like 2	Adenosine triphosphate(DB00171)						99.0	89.0	93.0					18																	12367060		2203	4300	6503	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12367060C>T	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.456G>A	18.37:g.12367060C>T							p.L152L	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			5	569	-			152			Helical; (Potential).		Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.456G>A	CCDS11859.1																																																																																				0.458	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		16	48	0	0	0	0.003163	0	16	48				
ACAA2	10449	broad.mit.edu	37	18	47322175	47322175	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr18:47322175C>G	ENST00000285093.10	-	4	864	c.389G>C	c.(388-390)aGa>aCa	p.R130T	ACAA2_ENST00000587994.1_Missense_Mutation_p.R127T|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_Missense_Mutation_p.R75T	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	130					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)	p.R130T(1)		large_intestine(2)|lung(7)|ovary(1)	10						ACGCACATTTCTGACACAGTA	0.323																																							uc002ldw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(388-390)AGA>ACA		acetyl-coenzyme A acyltransferase 2							71.0	71.0	71.0					18																	47322175		2203	4300	6503	SO:0001583	missense	10449				anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	g.chr18:47322175C>G	D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.389G>C	18.37:g.47322175C>G	ENSP00000285093:p.Arg130Thr					ACAA2_uc002ldx.3_Missense_Mutation_p.R127T	p.R130T	NM_006111	NP_006102	P42765	THIM_HUMAN			4	786	-			130					Q9BUT6	Missense_Mutation	SNP	ENST00000285093.10	37	c.389G>C	CCDS11939.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047532	0.75846	.	.	ENSG00000167315	ENST00000285093	D	0.94280	-3.39	5.48	5.48	0.80851	Thiolase, N-terminal (1);Thiolase-like (1);	0.052533	0.64402	D	0.000001	D	0.94175	0.8131	L	0.31420	0.93	0.80722	D	1	D;D	0.63880	0.993;0.986	D;D	0.66084	0.941;0.916	D	0.93440	0.6793	10	0.35671	T	0.21	-21.3739	19.3515	0.94389	0.0:1.0:0.0:0.0	.	130;130	B2RB23;P42765	.;THIM_HUMAN	T	130	ENSP00000285093:R130T	ENSP00000285093:R130T	R	-	2	0	ACAA2	45576173	1.000000	0.71417	0.970000	0.41538	0.574000	0.36063	7.600000	0.82769	2.554000	0.86153	0.655000	0.94253	AGA		0.323	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111		7	86	0	0	0	0.004482	0	7	86				
SMAD4	4089	broad.mit.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	rs377767347		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361H(12)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413																																							uc010xdp.1		NA																	50	Whole gene deletion(36)|Substitution - Missense(12)|Unknown(2)	p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1)	pancreas(26)|large_intestine(13)|lung(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|oesophagus(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369	GRCh37	CM004254	SMAD4	M		c.(1081-1083)CGC>CAC		mothers against decapentaplegic homolog 4							167.0	138.0	148.0					18																	48591919		2203	4300	6503	SO:0001583	missense	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591919G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1082G>A	18.37:g.48591919G>A	ENSP00000341551:p.Arg361His					SMAD4_uc002lfb.3_Missense_Mutation_p.R206H	p.R361H	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1620	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	361		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1082G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477304	0.96291	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98120	-4.73;-4.73	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	361	Q13485	SMAD4_HUMAN	H	361	ENSP00000341551:R361H;ENSP00000381452:R361H	ENSP00000341551:R361H	R	+	2	0	SMAD4	46845917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		4	68	0	0	0	0.009096	0	4	68				
RDH8	50700	broad.mit.edu	37	19	10127840	10127840	+	Missense_Mutation	SNP	G	G	C	rs144177019		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:10127840G>C	ENST00000171214.1	+	2	460	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	RDH8_ENST00000591589.1_Missense_Mutation_p.E91Q	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	71					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.E71Q(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGCAGTGATGAGTCGGTGGC	0.612																																							uc002mmr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(211-213)GAG>CAG		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						82.0	71.0	74.0					19																	10127840		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10127840G>C	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.211G>C	19.37:g.10127840G>C	ENSP00000171214:p.Glu71Gln						p.E71Q	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		2	460	+			71					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.211G>C		.	.	.	.	.	.	.	.	.	.	G	12.95	2.091942	0.36952	.	.	ENSG00000080511	ENST00000171214	D	0.94000	-3.33	4.77	4.77	0.60923	NAD(P)-binding domain (1);	0.180834	0.47093	D	0.000247	D	0.90184	0.6932	L	0.45581	1.43	0.50171	D	0.999856	B	0.18863	0.031	B	0.24394	0.053	D	0.86392	0.1736	10	0.17832	T	0.49	.	15.3068	0.73998	0.0:0.0:1.0:0.0	.	71	Q9NYR8	RDH8_HUMAN	Q	71	ENSP00000171214:E71Q	ENSP00000171214:E71Q	E	+	1	0	RDH8	9988840	0.997000	0.39634	0.867000	0.34043	0.843000	0.47879	3.102000	0.50291	2.190000	0.69967	0.655000	0.94253	GAG		0.612	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	16	0	0	0	0.004672	0	3	16				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																							uc002mpz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(604-606)GCC>GTC		coactivator-associated arginine							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR	p.A202V	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			5	731	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		5	237	0	0	0	0.001168	0	5	237				
F2RL3	9002	broad.mit.edu	37	19	17000388	17000388	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:17000388C>G	ENST00000248076.3	+	2	444	c.114C>G	c.(112-114)agC>agG	p.S38R	F2RL3_ENST00000599210.1_Splice_Site_p.A37G	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	38					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.S38R(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCCCAGACAGCACGCCCTCAA	0.667																																							uc002nfa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(112-114)AGC>AGG		coagulation factor II (thrombin) receptor-like 3							56.0	57.0	57.0					19																	17000388		2203	4298	6501	SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000388C>G	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.114C>G	19.37:g.17000388C>G	ENSP00000248076:p.Ser38Arg						p.S38R	NM_003950	NP_003941	Q96RI0	PAR4_HUMAN			2	289	+			38					O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.114C>G	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659616	0.29515	.	.	ENSG00000127533	ENST00000248076	T	0.56776	0.44	2.86	0.476	0.16779	.	3.249610	0.01289	U	0.009978	T	0.32734	0.0839	N	0.14661	0.345	0.09310	N	1	P	0.39964	0.697	B	0.35413	0.202	T	0.19778	-1.0295	10	0.18710	T	0.47	.	6.2948	0.21079	0.0:0.6975:0.1878:0.1147	.	38	Q96RI0	PAR4_HUMAN	R	38	ENSP00000248076:S38R	ENSP00000248076:S38R	S	+	3	2	F2RL3	16861388	0.002000	0.14202	0.011000	0.14972	0.334000	0.28698	0.878000	0.28126	0.070000	0.16634	0.491000	0.48974	AGC		0.667	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			7	80	0	0	0	0.004482	0	7	80				
BCL2L12	83596	broad.mit.edu	37	19	50170394	50170394	+	Missense_Mutation	SNP	C	C	T	rs201494242		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:50170394C>T	ENST00000246785.3	+	3	736	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000593922.1_5'Flank|BCL2L12_ENST00000441864.2_Missense_Mutation_p.R159C|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|BCL2L12_ENST00000246784.3_Intron|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000601291.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	160					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)		p.R160C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TCTGCCCATCCGCCCCTGCTA	0.567																																							uc002ppa.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(478-480)CGC>TGC		BCL2-like 12 isoform 1		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	117.0	130.0	126.0		475,478	3.5	0.9	19		126	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	BCL2L12	NM_001040668.1,NM_138639.1	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	159/334,160/335	50170394	1,13005	2203	4300	6503	SO:0001583	missense	83596				apoptosis			g.chr19:50170394C>T	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.478C>T	19.37:g.50170394C>T	ENSP00000246785:p.Arg160Cys					IRF3_uc002pot.1_5'Flank|IRF3_uc010end.1_5'Flank|IRF3_uc002pox.1_5'Flank|IRF3_uc002poy.1_5'Flank|IRF3_uc002pou.2_5'Flank|IRF3_uc002pov.2_5'Flank|IRF3_uc002pow.2_5'Flank|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.2_Missense_Mutation_p.R159C	p.R160C	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	3	1160	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	160					Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP	ENST00000246785.3	37	c.478C>T	CCDS12776.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680843	0.68042	0.0	1.16E-4	ENSG00000126453	ENST00000246785;ENST00000441864	T;T	0.52754	0.65;0.65	3.53	3.53	0.40419	.	0.740477	0.11226	N	0.586188	T	0.40171	0.1106	N	0.24115	0.695	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.47744	0.556;0.556	T	0.27088	-1.0084	10	0.49607	T	0.09	-1.5856	10.881	0.46937	0.0:1.0:0.0:0.0	.	159;160	Q3SY13;Q9HB09	.;B2L12_HUMAN	C	160;159	ENSP00000246785:R160C;ENSP00000393803:R159C	ENSP00000246785:R160C	R	+	1	0	BCL2L12	54862206	0.362000	0.24980	0.874000	0.34290	0.793000	0.44817	2.875000	0.48491	2.283000	0.76528	0.561000	0.74099	CGC		0.567	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		11	212	0	0	0	0.008291	0	11	212				
ZNF525	170958	broad.mit.edu	37	19	53885195	53885195	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:53885195A>C	ENST00000355326.3	+	1	517	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.T455P|ZNF525_ENST00000467003.1_Missense_Mutation_p.T419P			Q8N782	ZN525_HUMAN	zinc finger protein 525	173					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)			endometrium(3)|kidney(3)|lung(3)	9						GTTATCCCTTACCTGCCATTG	0.373																																							uc010eqn.2		NA																	0					0						c.(1255-1257)ACC>CCC		Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695.																																				SO:0001583	missense	170958							g.chr19:53885195A>C	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000355326.3:c.517A>C	19.37:g.53885195A>C	ENSP00000408929:p.Thr173Pro					ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.1_Intron	p.T419P	NR_003699						4	1448	+								Q8TF23	Missense_Mutation	SNP	ENST00000355326.3	37	c.1255A>C		.	.	.	.	.	.	.	.	.	.	A	11.72	1.721696	0.30503	.	.	ENSG00000203326	ENST00000474037;ENST00000467003;ENST00000355326	T;T;T	0.07908	3.15;3.15;3.15	1.49	0.399	0.16325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.35549	-0.9784	8	0.51188	T	0.08	.	5.6	0.17349	0.8156:0.0:0.1844:0.0	.	173	Q8N782	ZN525_HUMAN	P	455;419;173	ENSP00000417696:T455P;ENSP00000419136:T419P;ENSP00000408929:T173P	ENSP00000408929:T173P	T	+	1	0	ZNF525	58577007	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.330000	0.07925	0.659000	0.30945	0.164000	0.16699	ACC		0.373	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		4	34	0	0	0	0.000602	0	4	34				
SPTBN1	6711	broad.mit.edu	37	2	54756736	54756736	+	Intron	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:54756736T>C	ENST00000356805.4	+	2	429				AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCACTGAGTTTGCCATGAAG	0.483																																							uc010yot.1		NA																	0					0						c.(253-255)TTT>TCT		SubName: Full=Putative uncharacterized protein DKFZp547I014;																																				SO:0001627	intron_variant	56969							g.chr2:54756736T>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.148+3033T>C	2.37:g.54756736T>C						SPTBN1_uc002rxu.2_Intron|SPTBN1_uc002rxv.1_Intron	p.F85S	NR_002229						1	378	+								B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.254T>C	CCDS33198.1																																																																																				0.483	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			3	83	0	0	0	0.004672	0	3	83				
CD207	50489	broad.mit.edu	37	2	71060878	71060878	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:71060878G>T	ENST00000410009.3	-	3	509	c.464C>A	c.(463-465)cCa>cAa	p.P155Q		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	155					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)	p.P155Q(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTTTAACTCTGGGATTTGGGC	0.438																																							uc002shg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(463-465)CCA>CAA		CD207 antigen, langerin							116.0	103.0	107.0					2																	71060878		1855	4110	5965	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060878G>T	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.464C>A	2.37:g.71060878G>T	ENSP00000386378:p.Pro155Gln						p.P155Q	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			3	511	-			155			Potential.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000410009.3	37	c.464C>A		.	.	.	.	.	.	.	.	.	.	G	3.342	-0.134478	0.06711	.	.	ENSG00000116031	ENST00000410009	T	0.27402	1.67	4.23	3.34	0.38264	.	0.000000	0.56097	D	0.000038	T	0.20861	0.0502	L	0.34521	1.04	0.09310	N	1	P	0.43857	0.819	B	0.42319	0.383	T	0.08617	-1.0713	10	0.10377	T	0.69	.	9.575	0.39452	0.0:0.0:0.7912:0.2088	.	155	Q9UJ71	CLC4K_HUMAN	Q	155	ENSP00000386378:P155Q	ENSP00000386378:P155Q	P	-	2	0	CD207	70914386	0.996000	0.38824	0.119000	0.21687	0.015000	0.08874	1.828000	0.39111	1.341000	0.45600	0.655000	0.94253	CCA		0.438	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		7	90	1	0	0.000157383	0.00308	0.000200167	7	90				
CCDC93	54520	broad.mit.edu	37	2	118703137	118703137	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:118703137G>A	ENST00000376300.2	-	17	1455	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S	CCDC93_ENST00000319432.5_Missense_Mutation_p.P439S	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	440								p.P440S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AAGGTACCAGGCGGCTCTCCA	0.512																																							uc002tlj.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1318-1320)CCT>TCT		coiled-coil domain containing 93							101.0	92.0	95.0					2																	118703137		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118703137G>A	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1318C>T	2.37:g.118703137G>A	ENSP00000365477:p.Pro440Ser					CCDC93_uc010fld.1_Missense_Mutation_p.P440S	p.P440S	NM_019044	NP_061917	Q567U6	CCD93_HUMAN			17	1444	-			440					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.1318C>T	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	G	1.803	-0.476675	0.04414	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.16196	2.36;2.36	4.79	0.863	0.19062	.	1.502590	0.03707	N	0.249523	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29458	-1.0011	10	0.11794	T	0.64	2.4114	3.7091	0.08413	0.0871:0.3119:0.4401:0.1609	.	440	Q567U6	CCD93_HUMAN	S	440;439	ENSP00000365477:P440S;ENSP00000324135:P439S	ENSP00000324135:P439S	P	-	1	0	CCDC93	118419607	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.746000	0.26275	0.148000	0.19059	-0.140000	0.14226	CCT		0.512	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		5	99	0	0	0	0.001984	0	5	99				
TTN	7273	broad.mit.edu	37	2	179650412	179650412	+	Missense_Mutation	SNP	G	G	A	rs375132408		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:179650412G>A	ENST00000591111.1	-	15	2652	c.2428C>T	c.(2428-2430)Cgc>Tgc	p.R810C	TTN_ENST00000342175.6_Missense_Mutation_p.R764C|TTN_ENST00000360870.5_Missense_Mutation_p.R810C|TTN_ENST00000460472.2_Missense_Mutation_p.R764C|TTN_ENST00000359218.5_Missense_Mutation_p.R764C|TTN_ENST00000589042.1_Missense_Mutation_p.R810C|TTN_ENST00000342992.6_Missense_Mutation_p.R810C			Q8WZ42	TITIN_HUMAN	titin	33641					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R764C(3)|p.R810C(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAGCTGTGCGGGGGCGTTTA	0.388																																							uc010zfg.1		NA																	6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2428-2430)CGC>TGC		titin isoform N2-A		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	193.0	187.0	189.0		2290,2290,2428,2428,2290	5.5	1.0	2		189	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	764/27119,764/27052,810/5605,810/33424,764/26927	179650412	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650412G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2428C>T	2.37:g.179650412G>A	ENSP00000465570:p.Arg810Cys					TTN_uc010zfh.1_Missense_Mutation_p.R764C|TTN_uc010zfi.1_Missense_Mutation_p.R764C|TTN_uc010zfj.1_Missense_Mutation_p.R764C|TTN_uc002unb.2_Missense_Mutation_p.R810C	p.R810C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		15	2652	-			810					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.2428C>T		.	.	.	.	.	.	.	.	.	.	G	13.55	2.271184	0.40194	2.27E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66995	-0.24;0.0;0.0;-0.01;0.13	5.51	5.51	0.81932	Ribonuclease H-like (1);	.	.	.	.	T	0.54679	0.1873	L	0.27053	0.805	0.35153	D	0.769965	B;B;B;B;P	0.42735	0.071;0.071;0.071;0.071;0.788	B;B;B;B;B	0.33042	0.005;0.005;0.005;0.005;0.157	T	0.69587	-0.5105	9	0.87932	D	0	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	764;764;764;810;810	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	810;764;764;764;764;810	ENSP00000343764:R810C;ENSP00000434586:R764C;ENSP00000340554:R764C;ENSP00000352154:R764C;ENSP00000354117:R810C	ENSP00000340554:R764C	R	-	1	0	TTN	179358657	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.940000	0.63533	2.738000	0.93877	0.655000	0.94253	CGC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	153	0	0	0	0.001984	0	7	153				
CPS1	1373	broad.mit.edu	37	2	211444463	211444463	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:211444463C>T	ENST00000233072.5	+	5	693	c.497C>T	c.(496-498)aCa>aTa	p.T166I	CPS1_ENST00000430249.2_Missense_Mutation_p.T172I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	166	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.T172I(1)|p.T166I(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GGAGTGGACACAAGAATGCTG	0.358																																							uc002vee.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(496-498)ACA>ATA		carbamoyl-phosphate synthetase 1 isoform b							161.0	168.0	166.0					2																	211444463		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211444463C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.497C>T	2.37:g.211444463C>T	ENSP00000233072:p.Thr166Ile					CPS1_uc010fur.2_Missense_Mutation_p.T172I	p.T166I	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	5	629	+			166			Anthranilate phosphoribosyltransferase homolog.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.497C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638970	0.87760	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.97161	-4.27;-4.27	5.52	5.52	0.82312	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	H	0.99197	4.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98664	1.0685	10	0.87932	D	0	.	17.6208	0.88080	0.0:1.0:0.0:0.0	.	176;166	Q59HF8;P31327	.;CPSM_HUMAN	I	172;174;166;166	ENSP00000402608:T172I;ENSP00000233072:T166I	ENSP00000233072:T166I	T	+	2	0	CPS1	211152708	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.760000	0.74939	2.605000	0.88082	0.591000	0.81541	ACA		0.358	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			7	105	0	0	0	0.004482	0	7	105				
ARPC2	10109	broad.mit.edu	37	2	219103426	219103426	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:219103426C>T	ENST00000295685.10	+	5	569	c.308C>T	c.(307-309)cCg>cTg	p.P103L	ARPC2_ENST00000315717.5_Missense_Mutation_p.P103L|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	103					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)	p.P103L(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GAAAATCTTCCGGCATCCAAG	0.373																																							uc002vhd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(307-309)CCG>CTG		actin related protein 2/3 complex subunit 2							132.0	137.0	135.0					2																	219103426		2203	4300	6503	SO:0001583	missense	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219103426C>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.308C>T	2.37:g.219103426C>T	ENSP00000295685:p.Pro103Leu					ARPC2_uc002vhe.2_Missense_Mutation_p.P103L|ARPC2_uc002vhf.2_5'UTR	p.P103L	NM_152862	NP_690601	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	6	420	+		Renal(207;0.0474)	103					Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.308C>T	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490387	0.84962	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.52	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.90814	3.15	0.80722	D	1	D	0.69078	0.997	P	0.56751	0.805	T	0.80728	-0.1253	9	0.87932	D	0	.	10.6886	0.45858	0.1323:0.8:0.0:0.0677	.	103	O15144	ARPC2_HUMAN	L	103	.	ENSP00000295685:P103L	P	+	2	0	ARPC2	218811671	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.651000	0.83577	0.889000	0.36185	0.563000	0.77884	CCG		0.373	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		5	224	0	0	0	0.000602	0	5	224				
SPHKAP	80309	broad.mit.edu	37	2	228881884	228881884	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr2:228881884C>T	ENST00000392056.3	-	7	3732	c.3686G>A	c.(3685-3687)cGa>cAa	p.R1229Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1229Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1229						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.R1229Q(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACTGGGGATCGCAGAGAAGG	0.567																																							uc002vpq.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(3685-3687)CGA>CAA		sphingosine kinase type 1-interacting protein							73.0	73.0	73.0					2																	228881884		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881884C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3686G>A	2.37:g.228881884C>T	ENSP00000375909:p.Arg1229Gln					SPHKAP_uc002vpp.2_Missense_Mutation_p.R1229Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1229Q	p.R1229Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3733	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1229					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3686G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654225	0.67472	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42900	0.96;0.96	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.72894	2.215	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.67043	-0.5770	10	0.72032	D	0.01	.	19.1942	0.93681	0.0:1.0:0.0:0.0	.	260;1229;1229	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	Q	1229	ENSP00000375909:R1229Q;ENSP00000339886:R1229Q	ENSP00000339886:R1229Q	R	-	2	0	SPHKAP	228590128	1.000000	0.71417	0.690000	0.30148	0.117000	0.20001	7.194000	0.77789	2.785000	0.95823	0.655000	0.94253	CGA		0.567	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		6	111	0	0	0	0.001168	0	6	111				
C22orf29	79680	broad.mit.edu	37	22	19839740	19839740	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr22:19839740G>A	ENST00000405640.1	-	2	713	c.45C>T	c.(43-45)atC>atT	p.I15I	GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000407472.1_Silent_p.I15I|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Silent_p.I15I|GNB1L_ENST00000403325.1_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	15					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)		p.I15I(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CGGCTGCCCAGATGGGAATGC	0.637																																							uc002zqg.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(43-45)ATC>ATT		hypothetical protein LOC79680							61.0	60.0	60.0					22																	19839740		2203	4299	6502	SO:0001819	synonymous_variant	79680							g.chr22:19839740G>A	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.45C>T	22.37:g.19839740G>A						GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Silent_p.I15I|C22orf29_uc002zqi.2_Silent_p.I15I|C22orf29_uc010grt.1_Intron	p.I15I	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN			2	644	-	Colorectal(54;0.0993)		15					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Silent	SNP	ENST00000405640.1	37	c.45C>T	CCDS13769.1																																																																																				0.637	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		27	75	0	0	0	0.00632	0	27	75				
ACO2	50	broad.mit.edu	37	22	41919908	41919908	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr22:41919908C>T	ENST00000216254.4	+	12	1467	c.1445C>T	c.(1444-1446)gCa>gTa	p.A482V	ACO2_ENST00000396512.3_Missense_Mutation_p.A507V	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	482					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)	p.A482V(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CGCAACGACGCAAACCCCGAG	0.607																																							uc003bac.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(1444-1446)GCA>GTA		aconitase 2, mitochondrial precursor							124.0	96.0	106.0					22																	41919908		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41919908C>T	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1445C>T	22.37:g.41919908C>T	ENSP00000216254:p.Ala482Val					ACO2_uc003bad.2_Missense_Mutation_p.A507V	p.A482V	NM_001098	NP_001089	Q99798	ACON_HUMAN			12	1467	+			482					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.1445C>T	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789929	0.70337	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.77358	-1.09;-1.09	5.27	5.27	0.74061	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.92923	3.36	0.80722	D	1	P;B	0.35192	0.489;0.083	B;B	0.39935	0.314;0.066	D	0.88380	0.3001	10	0.87932	D	0	.	19.2453	0.93899	0.0:1.0:0.0:0.0	.	507;482	A2A274;Q99798	.;ACON_HUMAN	V	203;463;482;507	ENSP00000216254:A482V;ENSP00000379769:A507V	ENSP00000216254:A482V	A	+	2	0	ACO2	40249854	1.000000	0.71417	0.683000	0.30040	0.318000	0.28184	7.449000	0.80643	2.629000	0.89072	0.591000	0.81541	GCA		0.607	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		15	28	0	0	0	0.004007	0	15	28				
PARP3	10039	broad.mit.edu	37	3	51978890	51978890	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr3:51978890G>C	ENST00000417220.2	+	6	1086	c.598G>C	c.(598-600)Gag>Cag	p.E200Q	PARP3_ENST00000398755.3_Missense_Mutation_p.E207Q|RRP9_ENST00000232888.6_5'Flank|PARP3_ENST00000431474.1_Missense_Mutation_p.E200Q			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	200	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E207Q(1)		ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTTCAGCAAGGAGATGTTCAA	0.622																																							uc003dby.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)GAG>CAG		poly (ADP-ribose) polymerase family, member 3							50.0	52.0	51.0					3																	51978890		2099	4246	6345	SO:0001583	missense	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51978890G>C	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.598G>C	3.37:g.51978890G>C	ENSP00000395951:p.Glu200Gln					RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Missense_Mutation_p.E207Q	p.E200Q	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	969	+			200			PARP alpha-helical.		Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	37	c.598G>C	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964335	0.74131	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.01	5.01	0.66863	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.135884	0.64402	D	0.000003	T	0.13927	0.0337	N	0.21373	0.66	0.50813	D	0.999891	B;P	0.41475	0.026;0.751	B;B	0.37989	0.01;0.262	T	0.04537	-1.0944	10	0.40728	T	0.16	-17.7066	18.0995	0.89501	0.0:0.0:1.0:0.0	.	207;200	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	Q	200;200;207;200	ENSP00000395951:E200Q;ENSP00000401511:E200Q;ENSP00000381740:E207Q;ENSP00000417625:E200Q	ENSP00000381740:E207Q	E	+	1	0	PARP3	51953930	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.201000	0.77847	2.585000	0.87301	0.655000	0.94253	GAG		0.622	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		5	45	0	0	0	0.001984	0	5	45				
TNFSF10	8743	broad.mit.edu	37	3	172224321	172224321	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr3:172224321G>A	ENST00000241261.2	-	5	929	c.807C>T	c.(805-807)gaC>gaT	p.D269D	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	269					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)	p.D269D(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGGCTTCATGGTCCATGTCTA	0.368																																							uc003fid.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|lung(1)	5						c.(805-807)GAC>GAT		tumor necrosis factor (ligand) superfamily,							74.0	70.0	72.0					3																	172224321		2203	4300	6503	SO:0001819	synonymous_variant	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172224321G>A	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.807C>T	3.37:g.172224321G>A						TNFSF10_uc003fie.2_3'UTR	p.D269D	NM_003810	NP_003801	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		5	902	-	Ovarian(172;0.00197)|Breast(254;0.158)		269			Extracellular (Potential).		A1Y9B3	Silent	SNP	ENST00000241261.2	37	c.807C>T	CCDS3219.1																																																																																				0.368	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			4	64	0	0	0	0.009096	0	4	64				
DGKG	1608	broad.mit.edu	37	3	186015218	186015218	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr3:186015218G>T	ENST00000265022.3	-	5	904	c.365C>A	c.(364-366)cCt>cAt	p.P122H	DGKG_ENST00000344484.4_Missense_Mutation_p.P122H|DGKG_ENST00000382164.4_Missense_Mutation_p.P122H|DGKG_ENST00000544847.1_Missense_Mutation_p.P122H	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	122					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCAGTATCAGGGGCACAGGC	0.448																																							uc003fqa.2		NA																	0				breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(364-366)CCT>CAT		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						136.0	131.0	133.0					3																	186015218		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186015218G>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.365C>A	3.37:g.186015218G>T	ENSP00000265022:p.Pro122His					DGKG_uc003fqb.2_Missense_Mutation_p.P122H|DGKG_uc003fqc.2_Missense_Mutation_p.P122H|DGKG_uc011brx.1_Missense_Mutation_p.P122H	p.P122H	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	5	902	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		122					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.365C>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884346	0.72410	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.3	5.3	0.74995	.	0.068338	0.64402	D	0.000020	T	0.63604	0.2525	M	0.68317	2.08	0.54753	D	0.999985	P;D;D;B	0.62365	0.895;0.991;0.984;0.03	B;P;P;B	0.62435	0.413;0.902;0.83;0.028	T	0.61227	-0.7105	10	0.42905	T	0.14	.	15.1909	0.73044	0.0:0.0:1.0:0.0	.	122;122;122;122	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	H	122;122;122;122;125	ENSP00000265022:P122H;ENSP00000339777:P122H;ENSP00000371599:P122H;ENSP00000440507:P122H	ENSP00000265022:P122H	P	-	2	0	DGKG	187497912	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	4.713000	0.61895	2.868000	0.98415	0.555000	0.69702	CCT		0.448	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			14	194	1	0	9.16793e-09	0.00499	1.21313e-08	14	194				
FAT4	79633	broad.mit.edu	37	4	126389827	126389827	+	Silent	SNP	C	C	T	rs144476127	byFrequency	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr4:126389827C>T	ENST00000394329.3	+	11	12073	c.12060C>T	c.(12058-12060)ggC>ggT	p.G4020G	FAT4_ENST00000335110.5_Silent_p.G2283G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4020	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4020G(2)|p.G3985G(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACCAGACAGGCGACCGGGCTG	0.398													C|||	5	0.000998403	0.003	0.0	5008	,	,		15346	0.0		0.001	False		,,,				2504	0.0						uc003ifj.3		NA																	4	Substitution - coding silent(4)		lung(2)|prostate(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(12058-12060)GGC>GGT		FAT tumor suppressor homolog 4 precursor		C		8,4398	14.3+/-33.2	0,8,2195	83.0	82.0	82.0		12060	-2.6	0.8	4	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous	FAT4	NM_024582.4		0,8,6495	TT,TC,CC		0.0,0.1816,0.0615		4020/4982	126389827	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126389827C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12060C>T	4.37:g.126389827C>T						FAT4_uc011cgp.1_Silent_p.G2283G|FAT4_uc003ifi.1_Silent_p.G1498G	p.G4020G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			11	12060	+			4020			Laminin G-like 1.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.12060C>T	CCDS3732.3																																																																																				0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		11	69	0	0	0	0.013537	0	11	69				
PRDM9	56979	broad.mit.edu	37	5	23522507	23522507	+	Silent	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr5:23522507T>C	ENST00000296682.3	+	7	785	c.603T>C	c.(601-603)gaT>gaC	p.D201D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	201					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.D201D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGGATGATGATTACCTCTGTA	0.443										HNSCC(3;0.000094)																													uc003jgo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(601-603)GAT>GAC		PR domain containing 9							121.0	132.0	128.0					5																	23522507		2030	4205	6235	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522507T>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.603T>C	5.37:g.23522507T>C		HNSCC(3;0.000094)					p.D201D	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			7	785	+			201					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.603T>C	CCDS43307.1																																																																																				0.443	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		15	237	0	0	0	0.004007	0	15	237				
CLINT1	9685	broad.mit.edu	37	5	157218721	157218721	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr5:157218721G>A	ENST00000411809.2	-	10	1574	c.1370C>T	c.(1369-1371)tCa>tTa	p.S457L	CLINT1_ENST00000530742.1_Missense_Mutation_p.S439L|CLINT1_ENST00000296951.5_Missense_Mutation_p.S439L|CLINT1_ENST00000523908.1_Missense_Mutation_p.S457L|CLINT1_ENST00000523094.1_Missense_Mutation_p.S439L	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	457					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.S439L(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTGATCTTGACATAGGCAA	0.378																																					Colon(22;427 587 2170 6147 14291)	Colon(22;427 587 2170 6147 14291)	uc003lxj.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1369-1371)TCA>TTA		epsin 4							146.0	140.0	141.0					5																	157218721		1881	4121	6002	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157218721G>A	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1370C>T	5.37:g.157218721G>A	ENSP00000388340:p.Ser457Leu					CLINT1_uc003lxg.1_5'Flank|CLINT1_uc003lxh.1_Missense_Mutation_p.S31L|CLINT1_uc003lxi.1_Missense_Mutation_p.S439L|CLINT1_uc011ddv.1_Missense_Mutation_p.S457L	p.S457L	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	1560	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	457					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.1370C>T	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091684	0.94149	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.69	5.69	0.88448	.	0.183165	0.49916	D	0.000139	T	0.57829	0.2080	L	0.61218	1.895	0.80722	D	1	D;D	0.61697	0.99;0.979	P;P	0.56088	0.791;0.642	T	0.49799	-0.8901	10	0.33141	T	0.24	0.0151	20.205	0.98274	0.0:0.0:1.0:0.0	.	457;457	B7Z6F8;Q14677	.;EPN4_HUMAN	L	439;439;457;439;457	ENSP00000429345:S439L;ENSP00000433419:S439L;ENSP00000388340:S457L;ENSP00000296951:S439L;ENSP00000429824:S457L	ENSP00000296951:S439L	S	-	2	0	CLINT1	157151299	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.224000	0.95209	2.857000	0.98124	0.650000	0.86243	TCA		0.378	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		7	291	0	0	0	0.00308	0	7	291				
GABRA6	2559	broad.mit.edu	37	5	161117220	161117220	+	Silent	SNP	A	A	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr5:161117220A>T	ENST00000274545.5	+	7	1120	c.687A>T	c.(685-687)atA>atT	p.I229I	GABRA6_ENST00000523217.1_Silent_p.I219I|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	229					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.I229I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AATACGTTATAATGACAGTTT	0.358										TCGA Ovarian(5;0.080)																													uc003lyu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(685-687)ATA>ATT		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						134.0	119.0	124.0					5																	161117220		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161117220A>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.687A>T	5.37:g.161117220A>T		TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'UTR	p.I229I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1025	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	229			Extracellular (Probable).		A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.687A>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	A	8.956	0.969425	0.18659	.	.	ENSG00000145863	ENST00000520000	.	.	.	5.56	1.34	0.21922	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3579	0.74443	0.6288:0.3712:0.0:0.0	.	.	.	.	L	169	.	.	X	+	2	2	GABRA6	161049798	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	0.573000	0.23699	0.347000	0.23924	0.533000	0.62120	TAA		0.358	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			7	106	0	0	0	0.00308	0	7	106				
GRM6	2916	broad.mit.edu	37	5	178408745	178408745	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr5:178408745C>T	ENST00000517717.1	-	11	2585	c.2547G>A	c.(2545-2547)caG>caA	p.Q849Q	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.Q849Q			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	849					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.Q849Q(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TCTGCACATTCTGCTCTGGAT	0.607																																							uc003mjr.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(2545-2547)CAG>CAA		glutamate receptor, metabotropic 6 precursor							144.0	137.0	140.0					5																	178408745		2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178408745C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2547G>A	5.37:g.178408745C>T						GRM6_uc003mjq.2_Silent_p.Q252Q	p.Q849Q	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	10	2726	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	849			Cytoplasmic (Potential).			Silent	SNP	ENST00000517717.1	37	c.2547G>A	CCDS4442.1																																																																																				0.607	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			7	170	0	0	0	0.001984	0	7	170				
TRIM39	56658	broad.mit.edu	37	6	30309601	30309601	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:30309601G>A	ENST00000396547.1	+	8	1282	c.1122G>A	c.(1120-1122)agG>agA	p.R374R	TRIM39_ENST00000376659.5_Silent_p.R344R|TRIM39-RPP21_ENST00000513556.1_Silent_p.R256R|TRIM39_ENST00000540416.1_Silent_p.R344R|TRIM39_ENST00000396551.3_Silent_p.R344R|TRIM39_ENST00000396548.1_Silent_p.R344R|TRIM39_ENST00000376656.4_Silent_p.R374R			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	374	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R374R(1)		ovary(3)	3						ACACACCAAGGCGTTTCACCT	0.572																																							uc010jrz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1120-1122)AGG>AGA		tripartite motif-containing 39 isoform 1							129.0	82.0	99.0					6																	30309601		1511	2709	4220	SO:0001819	synonymous_variant	56658				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding	g.chr6:30309601G>A	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1122G>A	6.37:g.30309601G>A						TRIM39_uc003npz.2_Silent_p.R344R|TRIM39_uc003nqb.2_Silent_p.R344R|TRIM39_uc003nqc.2_Silent_p.R344R|TRIM39_uc010jsa.1_Silent_p.R344R	p.R374R	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN			9	1434	+			374			B30.2/SPRY.		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	ENST00000396547.1	37	c.1122G>A	CCDS34377.1																																																																																				0.572	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		6	55	0	0	0	0.001984	0	6	55				
HLA-DRA	3122	broad.mit.edu	37	6	32411157	32411157	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:32411157A>G	ENST00000374982.5	+	3	522	c.449A>G	c.(448-450)tAt>tGt	p.Y150C	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.Y175C			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	175	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.Y175C(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AAGTTCCACTATCTCCCCTTC	0.547									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																														uc003obh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(523-525)TAT>TGT		major histocompatibility complex, class II, DR							140.0	143.0	142.0					6																	32411157		1510	2708	4218	SO:0001583	missense	3122	T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|KaposSarcoma_Familial_Clustering_of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32411157A>G		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.449A>G	6.37:g.32411157A>G	ENSP00000364121:p.Tyr150Cys					HLA-DRA_uc003obi.2_Missense_Mutation_p.Y150C	p.Y175C	NM_019111	NP_061984	P01903	DRA_HUMAN			3	605	+			175			Ig-like C1-type.|Extracellular (Potential).|Alpha-2.		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.524A>G		.	.	.	.	.	.	.	.	.	.	.	15.50	2.851885	0.51270	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.03004	4.08;4.08	5.59	4.41	0.53225	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.518930	0.20243	N	0.096257	T	0.09862	0.0242	M	0.93241	3.395	0.33884	D	0.636467	B;P	0.47302	0.105;0.893	B;P	0.52823	0.25;0.71	T	0.02950	-1.1090	10	0.87932	D	0	.	10.4869	0.44729	0.8551:0.0:0.0:0.1449	.	150;175	Q30118;P01903	.;DRA_HUMAN	C	175;150	ENSP00000378786:Y175C;ENSP00000364121:Y150C	ENSP00000364121:Y150C	Y	+	2	0	HLA-DRA	32519135	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.464000	0.45067	1.107000	0.41642	0.519000	0.50382	TAT		0.547	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		13	131	0	0	0	0.00245	0	13	131				
SYNGAP1	8831	broad.mit.edu	37	6	33406039	33406039	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:33406039C>T	ENST00000418600.2	+	8	1458	c.1357C>T	c.(1357-1359)Cac>Tac	p.H453Y	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.H394Y|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.H453Y	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	453	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.H453Y(1)|p.H438Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGCACTAGTTCACATCCTGCA	0.547																																							uc011dri.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1357-1359)CAC>TAC		synaptic Ras GTPase activating protein 1							155.0	146.0	149.0					6																	33406039		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33406039C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1357C>T	6.37:g.33406039C>T	ENSP00000403636:p.His453Tyr					SYNGAP1_uc003oeo.1_Missense_Mutation_p.H438Y|SYNGAP1_uc010juy.2_Missense_Mutation_p.H438Y|SYNGAP1_uc010juz.2_Missense_Mutation_p.H165Y	p.H453Y	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			8	1552	+			453			Ras-GAP.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1357C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192154	0.78902	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.17528	2.27;2.27;2.27	4.86	4.86	0.63082	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	L	0.55743	1.74	0.80722	D	1	D;D;D;B	0.76494	0.999;0.999;0.999;0.305	D;D;D;B	0.79108	0.982;0.992;0.992;0.286	T	0.01844	-1.1262	10	0.87932	D	0	.	15.5299	0.75952	0.0:1.0:0.0:0.0	.	453;453;453;453	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	Y	453;453;453;394	ENSP00000293748:H453Y;ENSP00000403636:H453Y;ENSP00000412475:H394Y	ENSP00000293748:H453Y	H	+	1	0	SYNGAP1	33514017	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.504000	0.84457	0.650000	0.86243	CAC		0.547	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		21	214	0	0	0	0.012319	0	21	214				
COL12A1	1303	broad.mit.edu	37	6	75801215	75801215	+	Silent	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:75801215T>C	ENST00000322507.8	-	61	8985	c.8676A>G	c.(8674-8676)aaA>aaG	p.K2892K	COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000483888.2_Silent_p.K2888K|COL12A1_ENST00000345356.6_Silent_p.K1728K|COL12A1_ENST00000416123.2_Silent_p.K2816K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2892	Collagen-like 3.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.K2892K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCCTATCACCTTTTTCTCCTT	0.284																																							uc003phs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(8674-8676)AAA>AAG		collagen, type XII, alpha 1 long isoform							108.0	101.0	103.0					6																	75801215		1811	4078	5889	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75801215T>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8676A>G	6.37:g.75801215T>C						COL12A1_uc003pht.2_Silent_p.K1728K	p.K2892K	NM_004370	NP_004361	Q99715	COCA1_HUMAN			61	8842	-			2892			Triple-helical region (COL2) with 1 imperfection.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.8676A>G	CCDS43482.1																																																																																				0.284	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		3	88	0	0	0	0.009096	0	3	88				
HEY2	23493	broad.mit.edu	37	6	126080673	126080673	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:126080673G>A	ENST00000368364.3	+	5	936	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	HEY2_ENST00000368365.1_Missense_Mutation_p.A201T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	247					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A247T(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGCAGCGTCGCCCCCTGCGT	0.662																																							uc003qad.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(739-741)GCC>ACC		hairy/enhancer-of-split related with YRPW motif							171.0	152.0	158.0					6																	126080673		2203	4299	6502	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080673G>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.739G>A	6.37:g.126080673G>A	ENSP00000357348:p.Ala247Thr					HEY2_uc011ebr.1_Missense_Mutation_p.A201T	p.A247T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	930	+			247						Missense_Mutation	SNP	ENST00000368364.3	37	c.739G>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426039	0.43020	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.58358	0.35;0.34	5.79	5.79	0.91817	.	.	.	.	.	T	0.21468	0.0517	L	0.29908	0.895	0.41594	D	0.988815	P	0.39782	0.688	B	0.27380	0.079	T	0.07177	-1.0786	9	0.20046	T	0.44	-22.0291	15.5034	0.75719	0.0:0.1377:0.8623:0.0	.	247	Q9UBP5	HEY2_HUMAN	T	201;247	ENSP00000357349:A201T;ENSP00000357348:A247T	ENSP00000357348:A247T	A	+	1	0	HEY2	126122366	1.000000	0.71417	0.991000	0.47740	0.306000	0.27790	6.602000	0.74141	2.731000	0.93534	0.561000	0.74099	GCC		0.662	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			28	281	0	0	0	0.007291	0	28	281				
ALDH8A1	64577	broad.mit.edu	37	6	135239586	135239586	+	Silent	SNP	G	G	A			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:135239586G>A	ENST00000265605.2	-	7	1499	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	ALDH8A1_ENST00000367847.2_Silent_p.F427F|ALDH8A1_ENST00000367845.2_Silent_p.F423F	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	477					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.F477F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TGATCTCAGTGAAGAAGTCGT	0.502																																							uc003qew.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1429-1431)TTC>TTT		aldehyde dehydrogenase 8A1 isoform 1							128.0	127.0	127.0					6																	135239586		2203	4300	6503	SO:0001819	synonymous_variant	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135239586G>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1431C>T	6.37:g.135239586G>A						ALDH8A1_uc003qex.2_Silent_p.F423F|ALDH8A1_uc010kgh.2_Silent_p.F255F|ALDH8A1_uc011ecx.1_Silent_p.F427F	p.F477F	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	7	1484	-	Colorectal(23;0.221)		477					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Silent	SNP	ENST00000265605.2	37	c.1431C>T	CCDS5171.1																																																																																				0.502	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			4	51	0	0	0	0.009096	0	4	51				
SASH1	23328	broad.mit.edu	37	6	148869469	148869469	+	Silent	SNP	C	C	T	rs111485793	byFrequency	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:148869469C>T	ENST00000367467.3	+	20	3994	c.3519C>T	c.(3517-3519)ccC>ccT	p.P1173P		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1173					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.P1173P(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCCGAAAGCCCGTCTCTCCTG	0.522													C|||	10	0.00199681	0.0061	0.0014	5008	,	,		20192	0.0		0.0	False		,,,				2504	0.001						uc003qme.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(3517-3519)CCC>CCT		SAM and SH3 domain containing 1		C		8,4398	14.3+/-33.2	0,8,2195	103.0	98.0	100.0		3519	2.3	1.0	6	dbSNP_132	100	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SASH1	NM_015278.3		0,10,6493	TT,TC,CC		0.0233,0.1816,0.0769		1173/1248	148869469	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148869469C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3519C>T	6.37:g.148869469C>T						SASH1_uc003qmf.1_Silent_p.P583P	p.P1173P	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	20	3994	+		Ovarian(120;0.0169)	1173					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.3519C>T	CCDS5212.1																																																																																				0.522	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		8	99	0	0	0	0.008291	0	8	99				
LPA	4018	broad.mit.edu	37	6	160978538	160978538	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr6:160978538T>G	ENST00000316300.5	-	29	4741	c.4697A>C	c.(4696-4698)gAt>gCt	p.D1566A	LPA_ENST00000447678.1_Missense_Mutation_p.D1566A			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4074	Kringle 14. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.D1566A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACACACGGATCGGTTGTGTA	0.498																																							uc003qtl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(4696-4698)GAT>GCT		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						108.0	108.0	108.0					6																	160978538		2070	4243	6313	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160978538T>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4697A>C	6.37:g.160978538T>G	ENSP00000321334:p.Asp1566Ala						p.D1566A	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	30	4817	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4074			Kringle 36.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4697A>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	N	13.23	2.174657	0.38413	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.65178	-0.14;-0.14	2.55	2.55	0.30701	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.54967	0.1891	M	0.88842	2.985	0.09310	N	0.999999	P	0.48016	0.904	P	0.46975	0.533	T	0.55166	-0.8183	9	0.72032	D	0.01	.	4.3528	0.11163	0.0:0.167:0.0:0.833	.	4074	P08519	APOA_HUMAN	A	1566	ENSP00000321334:D1566A;ENSP00000395608:D1566A	ENSP00000321334:D1566A	D	-	2	0	LPA	160898528	0.309000	0.24518	0.038000	0.18304	0.075000	0.17131	4.197000	0.58413	1.158000	0.42547	0.352000	0.21897	GAT		0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		3	134	0	0	0	0.009096	0	3	134				
CARD11	84433	broad.mit.edu	37	7	2985559	2985559	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:2985559C>T	ENST00000396946.4	-	4	655	c.252G>A	c.(250-252)ggG>ggA	p.G84G	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	84	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.G77G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCCCCTTTGCCCCTTGGTAT	0.493			Mis		DLBCL																																		uc003smv.2		NA		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(250-252)GGG>GGA		caspase recruitment domain family, member 11							166.0	171.0	169.0					7																	2985559		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2985559C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.252G>A	7.37:g.2985559C>T							p.G84G	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	4	656	-		Ovarian(82;0.0115)	84			CARD.		A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.252G>A	CCDS5336.2																																																																																				0.493	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		5	334	0	0	0	0.000602	0	5	334				
SCIN	85477	broad.mit.edu	37	7	12692224	12692224	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:12692224C>T	ENST00000297029.5	+	16	2133	c.2032C>T	c.(2032-2034)Ctt>Ttt	p.L678F	AC011891.5_ENST00000437088.1_lincRNA|SCIN_ENST00000519209.1_Missense_Mutation_p.L431F|SCIN_ENST00000445618.2_Missense_Mutation_p.L431F	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	678	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.L678F(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAAAATGTACCTTGAGACAGA	0.393																																							uc003ssn.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2032-2034)CTT>TTT		scinderin isoform 1							61.0	58.0	59.0					7																	12692224		1863	4131	5994	SO:0001583	missense	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12692224C>T	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.2032C>T	7.37:g.12692224C>T	ENSP00000297029:p.Leu678Phe					SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.L431F	p.L678F	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	16	2242	+			678			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	c.2032C>T	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587636	0.66105	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.55760	0.5;0.5;0.5	5.59	5.59	0.84812	Gelsolin domain (1);	0.057883	0.64402	D	0.000004	T	0.71736	0.3375	M	0.85299	2.745	0.38332	D	0.943831	D	0.60160	0.987	P	0.61722	0.893	T	0.78698	-0.2103	10	0.87932	D	0	-13.5623	12.6617	0.56817	0.2762:0.7238:0.0:0.0	.	678	Q9Y6U3	ADSV_HUMAN	F	678;431;431	ENSP00000297029:L678F;ENSP00000430997:L431F;ENSP00000390189:L431F	ENSP00000297029:L678F	L	+	1	0	SCIN	12658749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.138000	0.58017	2.630000	0.89119	0.650000	0.86243	CTT		0.393	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		3	80	0	0	0	0.004672	0	3	80				
PKD1L1	168507	broad.mit.edu	37	7	47835714	47835714	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:47835714C>G	ENST00000289672.2	-	55	8278	c.8228G>C	c.(8227-8229)aGa>aCa	p.R2743T	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2743					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)	p.R2743T(1)	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						AAAAGATTTTCTTTTTTGGGG	0.343																																							uc003tny.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(8227-8229)AGA>ACA		polycystin-1L1							68.0	72.0	70.0					7																	47835714		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47835714C>G	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.8228G>C	7.37:g.47835714C>G	ENSP00000289672:p.Arg2743Thr					C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	p.R2743T	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			55	8228	-			2743			Cytoplasmic (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.8228G>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	9.379	1.072518	0.20147	.	.	ENSG00000158683	ENST00000289672	T	0.19394	2.15	5.31	4.31	0.51392	.	0.917295	0.09171	N	0.838871	T	0.26484	0.0647	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.61397	0.888	T	0.03728	-1.1009	10	0.30854	T	0.27	-22.0617	5.9554	0.19271	0.0:0.8348:0.0:0.1652	.	2743	Q8TDX9	PK1L1_HUMAN	T	2743	ENSP00000289672:R2743T	ENSP00000289672:R2743T	R	-	2	0	PKD1L1	47802239	0.013000	0.17824	0.225000	0.23894	0.096000	0.18686	1.095000	0.30964	2.477000	0.83638	0.655000	0.94253	AGA		0.343	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		12	102	0	0	0	0.013537	0	12	102				
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR-AS1_ENST00000442411.1_RNA	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> M (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity; more sensitive to gefitinib than wild-type; dbSNP:rs121434568). {ECO:0000269|PubMed:15118125, ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GATTTTGGGCTGGCCAAACTG	0.537	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2	L858R(NCIH1975_LUNG)	8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1491	Substitution - Missense(1491)	p.L858R(3429)|p.L858L(4)|p.L858M(4)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858K(1)|p.L858G(1)	lung(1475)|upper_aerodigestive_tract(5)|thyroid(4)|large_intestine(2)|peritoneum(1)|stomach(1)|thymus(1)|breast(1)|ovary(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2572-2574)CTG>CGG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						105.0	98.0	101.0					7																	55259515		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55259515T>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2573T>G	7.37:g.55259515T>G	ENSP00000275493:p.Leu858Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R|uc003tqo.2_5'Flank	p.L858R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		21	2819	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		858		L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).|L -> M (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2573T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601026	0.87055	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.91351	-2.83;-2.83;-2.83	5.71	5.71	0.89125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.137592	0.50627	D	0.000117	D	0.96340	0.8806	M	0.92555	3.32	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.956;0.999	D	0.97213	0.9872	10	0.87932	D	0	.	14.8112	0.69996	0.0:0.0:0.0:1.0	.	813;858	Q504U8;P00533	.;EGFR_HUMAN	R	813;728;858;805	ENSP00000415559:L813R;ENSP00000275493:L858R;ENSP00000395243:L805R	ENSP00000275493:L858R	L	+	2	0	EGFR	55227009	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.890000	0.87313	2.176000	0.68965	0.528000	0.53228	CTG		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		44	67	0	0	0	0.010771	0	44	67				
PLXNA4	91584	broad.mit.edu	37	7	131866933	131866933	+	Missense_Mutation	SNP	C	C	T	rs201451359		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:131866933C>T	ENST00000359827.3	-	17	4137	c.3175G>A	c.(3175-3177)Gcc>Acc	p.A1059T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1059T			Q9HCM2	PLXA4_HUMAN	plexin A4	1059	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.A1059T(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCCATACGGCGATGGGTGTG	0.507																																							uc003vra.3		NA																	4	Substitution - Missense(4)		large_intestine(2)|lung(2)	ovary(1)	1						c.(3175-3177)GCC>ACC		plexin A4 isoform 1		C	THR/ALA	0,3896		0,0,1948	121.0	124.0	123.0		3175	4.6	0.9	7		123	2,8296		0,2,4147	yes	missense	PLXNA4	NM_020911.1	58	0,2,6095	TT,TC,CC		0.0241,0.0,0.0164	benign	1059/1895	131866933	2,12192	1948	4149	6097	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866933C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3175G>A	7.37:g.131866933C>T	ENSP00000352882:p.Ala1059Thr						p.A1059T	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			17	3404	-			1059			Extracellular (Potential).|IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3175G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	0.394	-0.922126	0.02396	0.0	2.41E-4	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.66638	-0.22;-0.22	5.43	4.56	0.56223	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.290065	0.38272	N	0.001757	T	0.21145	0.0509	N	0.00151	-1.98	0.32288	N	0.566674	B	0.02656	0.0	B	0.04013	0.001	T	0.36311	-0.9753	10	0.02654	T	1	.	6.4352	0.21819	0.1474:0.7029:0.0:0.1497	.	1059	Q9HCM2	PLXA4_HUMAN	T	1059	ENSP00000323194:A1059T;ENSP00000352882:A1059T	ENSP00000323194:A1059T	A	-	1	0	PLXNA4	131517473	0.079000	0.21365	0.920000	0.36463	0.179000	0.23085	0.642000	0.24735	1.304000	0.44892	0.561000	0.74099	GCC		0.507	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		13	63	0	0	0	0.001855	0	13	63				
NDUFB2	4708	broad.mit.edu	37	7	140402790	140402790	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr7:140402790C>T	ENST00000476279.1	+	2	297	c.223C>T	c.(223-225)Cat>Tat	p.H75Y	NDUFB2_ENST00000204307.5_Missense_Mutation_p.H65Y|NDUFB2_ENST00000465506.1_Missense_Mutation_p.H75Y|NDUFB2_ENST00000475276.1_Missense_Mutation_p.H48Y|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000482954.1_Missense_Mutation_p.H11Y|NDUFB2_ENST00000476470.1_Missense_Mutation_p.H11Y|NDUFB2_ENST00000471136.1_Missense_Mutation_p.H63Y|NDUFB2_ENST00000247866.4_Missense_Mutation_p.H75Y|NDUFB2_ENST00000460088.1_Missense_Mutation_p.H11Y|NDUFB2_ENST00000472695.1_Missense_Mutation_p.H11Y			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	75					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.H75Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					GCGCTTTTGGCATGACTCAGA	0.507																																							uc003vwa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(223-225)CAT>TAT		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						174.0	174.0	174.0					7																	140402790		2203	4300	6503	SO:0001583	missense	4708				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:140402790C>T	AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"""Mitochondrial respiratory chain complex / Complex I"""	7697	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase AGGG subunit"", ""complex I AGGG subunit"""	603838	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"""			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424	ENST00000476279.1:c.223C>T	7.37:g.140402790C>T	ENSP00000419087:p.His75Tyr					NDUFB2_uc010lnl.2_RNA	p.H75Y	NM_004546	NP_004537	O95178	NDUB2_HUMAN			2	287	+	Melanoma(164;0.00956)		75					Q6FGI6	Missense_Mutation	SNP	ENST00000476279.1	37	c.223C>T	CCDS5862.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215745	0.95104	.	.	ENSG00000090266	ENST00000482954;ENST00000476279;ENST00000247866;ENST00000465506;ENST00000204307;ENST00000464566;ENST00000460088;ENST00000472695;ENST00000476470;ENST00000471136;ENST00000475276	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76884	-0.2794	9	0.52906	T	0.07	-26.0442	20.2159	0.98296	0.0:1.0:0.0:0.0	.	75	O95178	NDUB2_HUMAN	Y	11;75;75;75;65;74;11;11;11;63;48	.	ENSP00000204307:H65Y	H	+	1	0	NDUFB2	140049259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.827000	0.75303	2.882000	0.98803	0.655000	0.94253	CAT		0.507	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348784.1	NM_004546		5	319	0	0	0	0.001984	0	5	319				
SLC7A2	6542	broad.mit.edu	37	8	17412165	17412165	+	Silent	SNP	G	G	A	rs370956110		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr8:17412165G>A	ENST00000494857.1	+	8	1370	c.1152G>A	c.(1150-1152)acG>acA	p.T384T	SLC7A2_ENST00000470360.1_Intron|SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000522656.1_Silent_p.T384T|SLC7A2_ENST00000004531.10_Silent_p.T424T	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	384					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.T384T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATTCCAAAACGAAGACACCAA	0.433																																							uc011kyc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1150-1152)ACG>ACA		solute carrier family 7, member 2 isoform 2	L-Lysine(DB00123)|L-Ornithine(DB00129)	G	,,	0,4406		0,0,2203	189.0	179.0	182.0		1152,1272,	4.6	1.0	8		182	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	SLC7A2	NM_001008539.3,NM_001164771.1,NM_003046.5	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	384/659,424/699,	17412165	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17412165G>A	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1152G>A	8.37:g.17412165G>A						SLC7A2_uc011kyd.1_Intron|SLC7A2_uc011kye.1_Silent_p.T424T|SLC7A2_uc011kyf.1_Silent_p.T384T	p.T384T	NM_001008539	NP_001008539	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	7	1321	+			384			Cytoplasmic (Potential).		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.1152G>A	CCDS34852.1																																																																																				0.433	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		5	118	0	0	0	0.000602	0	5	118				
RP1	6101	broad.mit.edu	37	8	55534023	55534023	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr8:55534023C>T	ENST00000220676.1	+	2	645	c.497C>T	c.(496-498)aCg>aTg	p.T166M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	166	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.T166M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACCCGAAGACGAGGCGTGCG	0.642																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(496-498)ACG>ATG		retinitis pigmentosa RP1 protein							83.0	85.0	84.0					8																	55534023		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55534023C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.497C>T	8.37:g.55534023C>T	ENSP00000220676:p.Thr166Met					RP1_uc011ldy.1_Missense_Mutation_p.T166M	p.T166M	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	645	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	166			Doublecortin 2.			Missense_Mutation	SNP	ENST00000220676.1	37	c.497C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709586	0.30322	.	.	ENSG00000104237	ENST00000220676	D	0.86562	-2.14	5.14	1.26	0.21427	Doublecortin domain (4);	0.635417	0.14570	N	0.311486	T	0.72930	0.3522	L	0.38175	1.15	0.09310	N	1	P	0.47604	0.898	B	0.30029	0.11	T	0.65496	-0.6154	10	0.62326	D	0.03	6.4508	4.3984	0.11374	0.1478:0.4103:0.0:0.4419	.	166	P56715	RP1_HUMAN	M	166	ENSP00000220676:T166M	ENSP00000220676:T166M	T	+	2	0	RP1	55696576	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.109000	0.15417	-0.050000	0.13356	0.650000	0.86243	ACG		0.642	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		15	96	0	0	0	0.004007	0	15	96				
SGK3	23678	broad.mit.edu	37	8	67734616	67734616	+	Silent	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr8:67734616C>T	ENST00000396596.1	+	6	553	c.339C>T	c.(337-339)gtC>gtT	p.V113V	SGK3_ENST00000522398.1_Silent_p.V113V|SGK3_ENST00000520976.1_Silent_p.V113V|SGK3_ENST00000345714.4_Silent_p.V113V|SGK3_ENST00000521198.2_Silent_p.V113V|C8orf44-SGK3_ENST00000519289.1_Silent_p.V113V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	113	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.V46V(1)|p.V113V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTCCAGATGTCAGAGCATTCC	0.333																																							uc003xwr.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|large_intestine(1)|lung(1)|breast(1)	4						c.(337-339)GTC>GTT		serum/glucocorticoid regulated kinase 3 isoform							132.0	136.0	135.0					8																	67734616		2203	4299	6502	SO:0001819	synonymous_variant	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67734616C>T		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.339C>T	8.37:g.67734616C>T						SGK3_uc003xwp.2_Silent_p.V107V|SGK3_uc003xwt.2_Silent_p.V113V|SGK3_uc003xwu.2_Silent_p.V113V	p.V113V	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		6	638	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	113			PX.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Silent	SNP	ENST00000396596.1	37	c.339C>T	CCDS6195.1																																																																																				0.333	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			12	166	0	0	0	0.010729	0	12	166				
SAMD12	401474	broad.mit.edu	37	8	119391896	119391896	+	Missense_Mutation	SNP	C	C	T	rs373060385		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr8:119391896C>T	ENST00000314727.4	-	4	502	c.366G>A	c.(364-366)atG>atA	p.M122I	SAMD12_ENST00000409003.4_Missense_Mutation_p.M122I|AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000527515.1_5'Flank	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	122	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.							p.M122I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GGGCAATCCCCATTCGCTCGA	0.468																																							uc003yom.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)ATG>ATA		sterile alpha motif domain containing 12 isoform							136.0	122.0	127.0					8																	119391896		2203	4300	6503	SO:0001583	missense	401474							g.chr8:119391896C>T	AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"""Sterile alpha motif (SAM) domain containing"""	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.366G>A	8.37:g.119391896C>T	ENSP00000314173:p.Met122Ile					SAMD12_uc010mda.1_Missense_Mutation_p.M122I|SAMD12_uc010mdb.1_RNA	p.M122I	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	STAD - Stomach adenocarcinoma(47;0.00391)		4	495	-	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		122			SAM.		Q0P502	Missense_Mutation	SNP	ENST00000314727.4	37	c.366G>A	CCDS6325.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	34|34|34	5.324144|5.324144|5.324144	0.95708|0.95708|0.95708	.|.|.	.|.|.	ENSG00000177570|ENSG00000177570|ENSG00000177570	ENST00000453675|ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328|ENST00000526765	.|D;D;D;D|.	.|0.84146|.	.|-1.81;-1.81;-1.81;-1.81|.	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.75317|0.75317|.	0.3833|0.3833|.	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;D|.	.|0.71674|.	.|0.925;0.998|.	.|D;D|.	.|0.83275|.	.|0.932;0.996|.	T|T|.	0.69978|0.69978|.	-0.4998|-0.4998|.	5|9|.	.|.|.	.|.|.	.|.|.	-26.885|-26.885|-26.885	20.8794|20.8794|20.8794	0.99867|0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|122;122|.	.|B8ZZB7;Q8N8I0|.	.|.;SAM12_HUMAN|.	R|I|X	109|122;114;122;122|137	.|ENSP00000387133:M122I;ENSP00000435927:M114I;ENSP00000314173:M122I;ENSP00000431360:M122I|.	.|.|.	G|M|W	-|-|-	1|3|2	0|0|0	SAMD12|SAMD12|SAMD12	119461077|119461077|119461077	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.985000|0.985000|0.985000	0.73830|0.73830|0.73830	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|ATG|TGG		0.468	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506		23	132	0	0	0	0.00333	0	23	132				
ENG	2022	broad.mit.edu	37	9	130581017	130581017	+	Missense_Mutation	SNP	G	G	A	rs367753784		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr9:130581017G>A	ENST00000373203.4	-	11	1806	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000344849.3_Missense_Mutation_p.P469L|ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000425991.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	469	Ser/Thr-rich.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)	p.P469L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CTGCTGCCCCGGCTCGATGGT	0.612									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																														uc004bsj.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1405-1407)CCG>CTG		endoglin isoform 1 precursor		G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	135.0	127.0	130.0		1406,1406	3.1	1.0	9		130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ENG	NM_001114753.1,NM_000118.2	98,98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	469/659,469/626	130581017	2,13004	2203	4300	6503	SO:0001583	missense	2022	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130581017G>A	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1406C>T	9.37:g.130581017G>A	ENSP00000362299:p.Pro469Leu					ENG_uc011mam.1_Missense_Mutation_p.P280L|ENG_uc004bsk.3_Missense_Mutation_p.P469L|uc004bsl.1_Intron	p.P469L	NM_001114753	NP_001108225	P17813	EGLN_HUMAN			11	1819	-			469			Ser/Thr-rich.|Extracellular (Potential).		Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	c.1406C>T	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	G	0.197	-1.048016	0.01981	2.27E-4	1.16E-4	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.76839	-1.05;-1.05	4.33	3.09	0.35607	Zona pellucida sperm-binding protein (1);	0.358324	0.20177	N	0.097602	T	0.41073	0.1143	N	0.01048	-1.04	0.32958	D	0.520688	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.47686	-0.9098	10	0.02654	T	1	3.0038	6.3745	0.21499	0.8854:0.0:0.1146:0.0	.	469;469	Q5T9B9;P17813	.;EGLN_HUMAN	L	469;469;469;287	ENSP00000362299:P469L;ENSP00000341917:P469L	ENSP00000341917:P469L	P	-	2	0	ENG	129620838	1.000000	0.71417	0.997000	0.53966	0.670000	0.39368	1.535000	0.36061	0.695000	0.31675	-0.672000	0.03802	CCG		0.612	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			6	124	0	0	0	0.001984	0	6	124				
ATXN3L	92552	broad.mit.edu	37	X	13337402	13337402	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:13337402C>G	ENST00000380622.2	-	1	1116	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	218					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.E218Q(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTTCCAGACTCATCACTTTCT	0.378																																							uc010ned.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(652-654)GAG>CAG		ataxin 3-like							242.0	222.0	228.0					X																	13337402		1568	3582	5150	SO:0001583	missense	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337402C>G		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.652G>C	X.37:g.13337402C>G	ENSP00000369996:p.Glu218Gln						p.E218Q	NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN			1	1117	-			218					B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	c.652G>C	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	c	3.362	-0.130174	0.06753	.	.	ENSG00000123594	ENST00000380622	T	0.18016	2.24	0.652	0.652	0.17823	.	0.271214	0.35838	N	0.002945	T	0.08802	0.0218	N	0.22421	0.69	0.20975	N	0.999818	B	0.18610	0.029	B	0.17098	0.017	T	0.21621	-1.0240	10	0.33940	T	0.23	.	4.3138	0.10982	1.0E-4:0.5651:0.4348:0.0	.	218	Q9H3M9	ATX3L_HUMAN	Q	218	ENSP00000369996:E218Q	ENSP00000369996:E218Q	E	-	1	0	ATXN3L	13247323	0.497000	0.26067	0.017000	0.16124	0.023000	0.10783	-0.070000	0.11523	0.575000	0.29434	0.417000	0.27973	GAG		0.378	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		12	592	0	0	0	0.010729	0	12	592				
NDUFB11	54539	broad.mit.edu	37	X	47001817	47001817	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:47001817C>T	ENST00000377811.3	-	3	1185	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	RBM10_ENST00000329236.7_5'Flank|RBM10_ENST00000377604.3_5'Flank|NDUFB11_ENST00000276062.8_Missense_Mutation_p.E131K|RBM10_ENST00000345781.6_5'Flank	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	121					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)		p.E131K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CTCTCAGCTTCGCGGCGGGAC	0.552																																					Ovarian(77;454 1296 7908 21551 37072)	Ovarian(77;454 1296 7908 21551 37072)	uc004dhd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(361-363)GAA>AAA		NADH dehydrogenase (ubiquinone) 1 beta							90.0	68.0	75.0					X																	47001817		2203	4300	6503	SO:0001583	missense	54539				respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I		g.chrX:47001817C>T	AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"""Mitochondrial respiratory chain complex / Complex I"""	20372	protein-coding gene	gene with protein product	"""complex I NP17.3 subunit"""	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.361G>A	X.37:g.47001817C>T	ENSP00000367042:p.Glu121Lys					NDUFB11_uc004dhc.2_Missense_Mutation_p.E131K|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank	p.E121K	NM_001135998	NP_001129470	Q9NX14	NDUBB_HUMAN			3	892	-			121					Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	ENST00000377811.3	37	c.361G>A	CCDS48100.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.107628	0.77096	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	M	0.86420	2.815	0.47778	D	0.999517	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82481	-0.0436	9	0.87932	D	0	-11.6292	10.6963	0.45901	0.0:1.0:0.0:0.0	.	121;131	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	K	121;125;131	.	ENSP00000276062:E131K	E	-	1	0	NDUFB11	46886761	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	5.199000	0.65152	2.286000	0.76751	0.523000	0.50628	GAA		0.552	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056382.1	NM_019056		3	55	0	0	0	0.004672	0	3	55				
SYP	6855	broad.mit.edu	37	X	49048091	49048091	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:49048091C>T	ENST00000263233.4	-	6	817	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	SYP_ENST00000479808.1_Missense_Mutation_p.A249T|SYP_ENST00000538567.1_Missense_Mutation_p.A131T	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	249					cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)	p.A249T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				TCGCCGTAGGCGTCCCCGGGT	0.706																																							uc004dmz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(745-747)GCC>ACC		synaptophysin							8.0	10.0	9.0					X																	49048091		2109	4104	6213	SO:0001583	missense	6855				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	g.chrX:49048091C>T	X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.745G>A	X.37:g.49048091C>T	ENSP00000263233:p.Ala249Thr					SYP_uc011mmz.1_Missense_Mutation_p.A131T|SYP_uc004dna.1_Missense_Mutation_p.A243T	p.A249T	NM_003179	NP_003170	P08247	SYPH_HUMAN			6	761	-		all_lung(315;0.00016)	249			Cytoplasmic (Potential).		B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	ENST00000263233.4	37	c.745G>A	CCDS14321.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501723	0.64298	.	.	ENSG00000102003	ENST00000263233;ENST00000538567;ENST00000479808	D;D;D	0.84070	-1.8;-1.8;-1.8	5.5	3.38	0.38709	.	0.601847	0.16986	N	0.191514	T	0.64929	0.2643	N	0.08118	0	0.35609	D	0.808521	B	0.18310	0.027	B	0.12156	0.007	T	0.61456	-0.7059	10	0.16420	T	0.52	-20.215	11.2062	0.48771	0.0:0.8094:0.0:0.1906	.	249	P08247	SYPH_HUMAN	T	249;131;249	ENSP00000263233:A249T;ENSP00000437456:A131T;ENSP00000418169:A249T	ENSP00000263233:A249T	A	-	1	0	SYP	48935035	0.047000	0.20315	0.992000	0.48379	0.943000	0.58893	0.274000	0.18680	1.083000	0.41159	0.600000	0.82982	GCC		0.706	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179		19	18	0	0	0	0.008871	0	19	18				
UBQLN2	29978	broad.mit.edu	37	X	56591554	56591554	+	Silent	SNP	T	T	C			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:56591554T>C	ENST00000338222.5	+	1	1529	c.1248T>C	c.(1246-1248)ttT>ttC	p.F416F		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	416					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F416F(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GCCCGCTGTTTACTGCAAATC	0.527																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1246-1248)TTT>TTC		ubiquilin 2							40.0	34.0	36.0					X																	56591554		2203	4300	6503	SO:0001819	synonymous_variant	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56591554T>C	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1248T>C	X.37:g.56591554T>C						UBQLN2_uc011moq.1_Silent_p.F416F	p.F416F	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	1483	+			416					O94798|Q5D027|Q9H3W6|Q9HAZ4	Silent	SNP	ENST00000338222.5	37	c.1248T>C	CCDS14374.1																																																																																				0.527	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		9	22	0	0	0	0.004482	0	9	22				
DCX	1641	broad.mit.edu	37	X	110654183	110654183	+	Missense_Mutation	SNP	T	T	C	rs150627878		TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chrX:110654183T>C	ENST00000338081.3	-	1	191	c.20A>G	c.(19-21)cAt>cGt	p.H7R	DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	7					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.H7R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ACAATGACTATGAAGGGGGAG	0.438													T|||	1	0.000264901	0.0008	0.0	3775	,	,		10875	0.0		0.0	False		,,,				2504	0.0						uc004epd.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|lung(1)|skin(1)	4						c.(19-21)CAT>CGT		doublecortin isoform a		T	,,,,ARG/HIS	2,3833		0,2,1630,571	141.0	123.0	129.0		,,,,20	0.5	0.0	X	dbSNP_134	129	0,6728		0,0,2428,1872	yes	intron,intron,intron,intron,missense	DCX	NM_001195553.1,NM_178151.2,NM_178152.2,NM_178153.2,NM_000555.3	,,,,29	0,2,4058,2443	CC,CT,TT,T		0.0,0.0522,0.0189	,,,,benign	,,,,7/442	110654183	2,10561	2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110654183T>C	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.20A>G	X.37:g.110654183T>C	ENSP00000337697:p.His7Arg					DCX_uc011msv.1_Missense_Mutation_p.H7R|DCX_uc004epe.2_Intron|DCX_uc004epf.2_Intron|DCX_uc004epg.2_Intron	p.H7R	NM_000555	NP_000546	O43602	DCX_HUMAN			1	192	-			7					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.20A>G	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	t	5.546	0.285560	0.10513	5.22E-4	0.0	ENSG00000077279	ENST00000338081	T	0.23950	1.88	4.46	0.511	0.16989	.	2.326850	0.01871	N	0.037206	T	0.13072	0.0317	N	0.08118	0	0.09310	N	0.999999	B	0.10296	0.003	B	0.09377	0.004	T	0.29212	-1.0019	10	0.87932	D	0	.	0.1792	0.00122	0.2172:0.2109:0.1898:0.382	.	7	O43602	DCX_HUMAN	R	7	ENSP00000337697:H7R	ENSP00000337697:H7R	H	-	2	0	DCX	110540839	0.007000	0.16637	0.034000	0.17996	0.973000	0.67179	-0.339000	0.07832	-0.018000	0.14079	0.414000	0.27820	CAT		0.438	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		70	102	0	0	0	0.01441	0	70	102				
CRNN	49860	broad.mit.edu	37	1	152382681	152382682	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr1:152382681_152382682delTC	ENST00000271835.3	-	3	938_939	c.876_877delGA	c.(874-879)gggacafs	p.T293fs	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	293	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGTGTGTGTCCCTGCCTGTA	0.609																																							uc001ezx.2		NA																	0				ovary(2)|skin(1)	3						c.(874-879)GGGACAfs		cornulin																																				SO:0001589	frameshift_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382681_152382682delTC	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.876_877delGA	1.37:g.152382681_152382682delTC	ENSP00000271835:p.Thr293fs						p.G292fs	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	950_951	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		292_293			Gln-rich.		B2RE60|Q8N613	Frame_Shift_Del	DEL	ENST00000271835.3	37	c.876_877delGA	CCDS1010.1																																																																																				0.609	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		33	488	NA	NA	NA	NA	NA	33	488	---	---	---	---
LONP1	9361	broad.mit.edu	37	19	5699070	5699071	+	Frame_Shift_Ins	INS	-	-	C	rs147331639	byFrequency	TCGA-49-4490-01A-21D-1855-08	TCGA-49-4490-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	940455cf-aa91-432a-bc39-9dfba206e32b	75ddc632-0535-4209-b189-302eedf4741c	g.chr19:5699070_5699071insC	ENST00000360614.3	-	10	1809_1810	c.1652_1653insG	c.(1651-1653)ggcfs	p.G551fs	LONP1_ENST00000593119.1_Frame_Shift_Ins_p.G487fs|LONP1_ENST00000590729.1_Frame_Shift_Ins_p.G421fs|LONP1_ENST00000585374.1_Frame_Shift_Ins_p.G437fs|LONP1_ENST00000540670.2_Frame_Shift_Ins_p.G355fs	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTCAGTCATGCCCCCGACGCT	0.644																																							uc002mcx.2		NA																	0					0						c.(1651-1653)GGCfs		mitochondrial lon peptidase 1 precursor																																				SO:0001589	frameshift_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5699070_5699071insC	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1653dupG	19.37:g.5699075_5699075dupC	ENSP00000353826:p.Gly551fs					LONP1_uc002mcy.2_Frame_Shift_Ins_p.G487fs|LONP1_uc010duh.2_Frame_Shift_Ins_p.G292fs|LONP1_uc010dui.2_Frame_Shift_Ins_p.G535fs|LONP1_uc002mcz.2_Frame_Shift_Ins_p.G355fs	p.G551fs	NM_004793	NP_004784	P36776	LONM_HUMAN			10	1685_1686	-			551						Frame_Shift_Ins	INS	ENST00000360614.3	37	c.1652_1653insG	CCDS12148.1																																																																																				0.644	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		8	47	NA	NA	NA	NA	NA	8	47	---	---	---	---
